The biochemical basis of mitochondrial diseases (Q39642608)

13 September 2017

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title

The biochemical basis of mitochondrial diseases (English)

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13 September 2017

H R Scholte

1

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13 September 2017

1 April 1988

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Journal of Bioenergetics and Biomembranes

13 September 2017

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13 September 2017

20

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13 September 2017

2

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13 September 2017

161-191

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https://scigraph.springernature.com/pub.10.1007/bf00768393

13 September 2017

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cites work

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Differential effects of 2-oxo acids on pyruvate utilization and fatty acid synthesis in rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: A functional defect of pyruvate oxidation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Glutamate dehydrogenase in olivopontocerebellar atrophies: leukocytes, fibroblasts, and muscle mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Trichopoliodystrophy. I. Report of a case and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Plasma and Urine Carnitine in Diabetic Ketosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Anthracycline glycoside-membrane interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

The maturational breakdown of mitochondria in reticulocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Carnitine palmitoyltransferase deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Carnitine deficiency, organic acidemias, and Reye's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Generation of superoxide anion by the NADH dehydrogenase of bovine heart mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00768393

Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment

21 January 2018

1 reference

12 December 2020

Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance

1 reference

12 December 2020

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

1 reference

12 December 2020

Reversibility of the inhibition of cytochromecoxidase by reticulocyte lipoxygenase

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12 December 2020

Carnitine metabolism and inborn errors

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12 December 2020

Follow-Up Study of a Myopathy with Loosely Coupled Mitochondria

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12 December 2020

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

1 reference

12 December 2020

Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings.

1 reference

12 December 2020

Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II

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12 December 2020

Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia

1 reference

12 December 2020

Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism

1 reference

12 December 2020

Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy

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12 December 2020

Glucose metabolism in fibroblasts from patients with erythrocyte hexokinase deficiency

1 reference

12 December 2020

Multiple Enzymatic Defects in Mitochondria in Hematological Cells of Patients with Primary Sideroblastic Anemia

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12 December 2020

Changes in the levels of coenzyme Q homologues, alpha-tocopherol and malondialdehyde in human tissue during the course of circulatory shock.

1 reference

12 December 2020

Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase

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12 December 2020

Enzyme studies in biotin-responsive disorders

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12 December 2020

Myopathy with abnormal mitochondria, transient low electron transport capacity in the respiratory chain, and absence of energy transduction at sites 1 and 2 in vitro

1 reference

12 December 2020

A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria

1 reference

12 December 2020

Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport

1 reference

12 December 2020

3-Ketothiolase deficiency

1 reference

12 December 2020

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

1 reference

12 December 2020

Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase

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12 December 2020

Translocation intermediates on the import pathway of proteins into mitochondria

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12 December 2020

Biochemical studies in the liver and muscle of patients with Zellweger syndrome.

1 reference

12 December 2020

Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency

1 reference

12 December 2020

Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia

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12 December 2020

Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

1 reference

12 December 2020

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

1 reference

12 December 2020

Rett syndrome revisited: a patient with biotin dependency.

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12 December 2020

Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study

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12 December 2020

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

1 reference

12 December 2020

Effects of ethanol on lipid metabolism

1 reference

12 December 2020

A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain

1 reference

12 December 2020

[Defect in the properties of brain mitochondrial monoamine oxidase in schizophrenia]

1 reference

12 December 2020

Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy

1 reference

12 December 2020

Mitochondrial ultrastructure with crystalloid inclusions in an unusual type of human myopathy

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12 December 2020

Malonyl coenzyme a decarboxylase deficiency

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12 December 2020

Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).

1 reference

12 December 2020

A decrease in glycine cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency

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12 December 2020

Shock-induced damage to mitochondrial function and some cellular antioxidant mechanisms in humans

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12 December 2020

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

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12 December 2020

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity

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12 December 2020

Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity

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12 December 2020

A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency

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12 December 2020

Treatment of Kearns-Sayre syndrome with coenzyme Q10

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12 December 2020

Abnormal Glutamate Metabolism in an Adult-Onset Degenerative Neurological Disorder

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12 December 2020

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

1 reference

12 December 2020

Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

1 reference

12 December 2020

An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis

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12 December 2020

Mitochondrial Myopathy with Partial Cytochrome Oxidase Deficiency and Impaired Oxidation of NADH-Linked Substrates

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12 December 2020

Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy

1 reference

12 December 2020

Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism

1 reference

12 December 2020

Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

1 reference

12 December 2020

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

1 reference

12 December 2020

Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase

1 reference

12 December 2020

Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency

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12 December 2020

Vitamin E and muscle diseases.

1 reference

12 December 2020

Tissue distribution and effects on mitochondrial protein synthesis of tetracyclines after prolonged continuous intravenous administration to rats

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12 December 2020

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

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12 December 2020

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria

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12 December 2020

Difficulties in assessing biochemical properties of abnormal muscle mitochondria

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12 December 2020

Mitochondrial myopathies

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12 December 2020

Inhibition of mitochondrial pyruvate transport by phenylpyruvate and alpha-ketoisocaproate.

1 reference

12 December 2020

Stabilization of the enzymatic systems of the inner mitochondrial membrane and related problems. A possible approach to the problem of the regulation of mitochondrial formation

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12 December 2020

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients

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12 December 2020

Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect

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12 December 2020

Cardiac function and acute chloramphenicol toxicity

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12 December 2020

Canine myocardial ischemia: defect in mitochondrial electron transfer complex I

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12 December 2020

Early changes of muscle mitochondria in Duchenne dystrophy. Partition and activity of mitochondrial enzymes in fractionated muscle of unaffected boys and adults and patients.

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12 December 2020

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

12 December 2020

The biochemistry of Reye's syndrome

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12 December 2020

Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts

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12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

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12 December 2020

Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction

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12 December 2020

Mitochondrial function in myasthenia gravis

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12 December 2020

Neurological disorders associated with deficiency of glutamate dehydrogenase

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12 December 2020

Animal models for dicarboxylic aciduria

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12 December 2020

Disorders of the pyruvate dehydrogenase complex

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12 December 2020

Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency

1 reference

12 December 2020

Quantitative analysis of the mitochondrial cytochrome P-450-linked monooxygenase system: NADPH-hepatoredoxin reductase, hepatoredoxin, and cytochrome P-450s27 in livers of patients with cerebrotendinous xanthomatosis

1 reference

12 December 2020

Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes

1 reference

12 December 2020

Familial carnitine deficiency. A fatal case and subclinical state in a sister

1 reference

12 December 2020

Control of pyruvate and beta-hydroxybutyrate utilization in rat brain mitochondria and its relevance to phenylketonuria and maple syrup urine disease

1 reference

12 December 2020

Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain

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12 December 2020

Changes in tissue levels of carnitine and other metabolites during myocardial ischemia and anoxia

1 reference

12 December 2020

Serum dicarboxylic acids in patients with Reye syndrome

1 reference

12 December 2020

URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit

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12 December 2020

Oxygen electrode studies with human skeletal muscle mitochondria in vitro

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12 December 2020

On the effect of chloramphenicol and oxytetracycline on the biogenesis of mammalian mitochondria

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12 December 2020

Inhibitory effect of zinc(II) on free radical lipid peroxidation in erythrocyte membranes

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12 December 2020

Mitochondria with defective respiratory control of oxidative phosphorylation isolated from muscle tissues of thyroidectomized rabbits

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12 December 2020

Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver

1 reference

12 December 2020

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

1 reference

12 December 2020

Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes

1 reference

12 December 2020

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

1 reference

12 December 2020

The mitochondrial adenine nucleotide translocator is an antigen in primary biliary cirrhosis

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12 December 2020

Immunological analysis of auto-antibodies against the adenine nucleotide translocator in dilated cardiomyopathy

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12 December 2020

Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue

1 reference

12 December 2020

Loosely coupled mitochondrial oxidative phosphorylation induced by protoporphyrin

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12 December 2020

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts

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12 December 2020

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

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12 December 2020

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts

1 reference

12 December 2020

Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

1 reference

12 December 2020

On the Possible Mechanism of Phenylacetate Neurotoxicity: Inhibition of Choline Acetyltransferase by Phenylacetyl-CoA

1 reference

12 December 2020

Inheritable biotin-treatable disorders and associated phenomena

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12 December 2020

Pyruvate carboxylase deficiency

1 reference

12 December 2020

Threonine dehydratase deficiency: a probable cause of non-ketotic hyperglycinaemia

1 reference

12 December 2020

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

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12 December 2020

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism

1 reference

12 December 2020

Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy

1 reference

12 December 2020

Evidence for identity between the hexokinase-binding protein and the mitochondrial porin in the outer membrane of rat liver mitochondria

1 reference

12 December 2020

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

1 reference

12 December 2020

Myoencephalopathies with abnormal mitochondria: a review

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12 December 2020

Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia

1 reference

12 December 2020

beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations.

1 reference

12 December 2020

Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase.

1 reference

12 December 2020

Benign reversible muscle cytochrome c oxidase deficiency: a second case

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12 December 2020

Non-ketotic hyperglycinaemia due to a deficiency of T-protein in the glycine cleavage system in liver and brain

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12 December 2020

The mitochondrial electron transport and oxidative phosphorylation system

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12 December 2020

Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis

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12 December 2020

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease

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12 December 2020

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency

1 reference

12 December 2020

Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and β-Hydroxyglutarate: Explanation of the symptoms in glutaric aciduria?

1 reference

12 December 2020

Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle

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12 December 2020

Some observations on muscle biopsies before and after denervation. Histological and biochemical changes in human extensor hallucis and digitorum brevis muscles two weeks after denervation

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12 December 2020

Studies on stabilization of the oxidative phosphorylation system. II. Electron transfer-dependent resistance of succinate oxidase and NADH oxidase systems of submitochondrial particles to proteinases and cobra venom phospholipase.

1 reference

12 December 2020

Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

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12 December 2020

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

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12 December 2020

FURTHER STUDIES ON A POPULATION OF HUMAN SKELETAL MUSCLE MITOCHONDRIA LACKING RESPIRATORY CONTROL

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12 December 2020

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

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12 December 2020

Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria

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12 December 2020

Mitochondrial formation of OH Radicals by an ubisemiquinone-dependent reaction an alternative pathway to the iron-catalysed Haber-Weiss cycle

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12 December 2020

A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain

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12 December 2020

Effects of ethanol on the biogenesis of mitochondrial membranes and associated mitochondrial functions

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12 December 2020

Inhibition of acetoacetate oxidation by brain mitochondria from the suckling rat by phenylpyruvate and ? ketoisocaproate

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12 December 2020

Thiamphenicol during the first trimester of human pregnancy: Placental transfer in vivo, placental uptake in vitro, and inhibition of mitochondrial function

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12 December 2020

Skeletal muscle disease with abnormal mitochondria

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12 December 2020

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

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12 December 2020

Heterogeneity of carnitine palmitoyltransferase deficiencies. Deficiency of CPT I in the hepatic form and CPT II in the muscular form

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12 December 2020

Deficiency of subunits in heart mitochondrial NADH-ubiquinone oxidoreductase of a patient with mitochondrial encephalomyopathy and cardiomyopathy.

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12 December 2020

Biotinidase deficiency: factors responsible for the increased biotin requirement

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12 December 2020

Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10.

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12 December 2020

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

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12 December 2020

Two siblings with cytochromec oxidase deficiency

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12 December 2020

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

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12 December 2020

Regulation of glutamate dehydrogenase by palmitoyl-coenzyme A

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12 December 2020

The histochemical characterization of the coupling state of skeletal muscle mitochondria

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12 December 2020

Activation of mitochondrial ATPase as evidence of loosely coupled oxidative phosphorylation in various skeletal muscle disorders. A histochemical fine-structural study

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12 December 2020

Four stages of mitochondrial deterioration in hemorrhagic shock

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12 December 2020

Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

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12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

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12 December 2020

Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid

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12 December 2020

Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency

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12 December 2020

Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration

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12 December 2020

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.

1 reference

12 December 2020

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

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12 December 2020

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset

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12 December 2020

Mitochondrial antigens and autoantibodies: from anti-M1 to anti-M9

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12 December 2020

Vitamin E inhibits platelet phospholipase A2

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12 December 2020

Adenine nucleotide transport in sonic submitochondrial particles. Kinetic properties and binding of specific inhibitors

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12 December 2020

Interaction with mitochondria of the anthracycline cytostatics adriamycin and daunomycin

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12 December 2020

Estimation of NADH oxidation in human skeletal muscle mitochondria.

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12 December 2020

NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin

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12 December 2020

Cytochrome c oxidase deficiency

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12 December 2020

Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency

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12 December 2020

Pyruvate-carboxylase deficiency with urea cycle impairment

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12 December 2020

Vitamin B 6 -dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B 6 dependent convulsion

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12 December 2020

Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant

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12 December 2020

Biotinidase deficiency: a novel vitamin recycling defect

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12 December 2020

Myopathy with abnormal structure and function of muscle mitochondria

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12 December 2020

A major role for viruses in acute childhood encephalopathy

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12 December 2020

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

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12 December 2020

The clinical features of mitochondrial myopathy.

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12 December 2020

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

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12 December 2020

Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase

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12 December 2020

Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)

1 reference

12 December 2020

Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)

1 reference

12 December 2020

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency

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12 December 2020

Demonstration of 26-hydroxylation of C27-steroids in human skin fibroblasts, and a deficiency of this activity in cerebrotendinous xanthomatosis

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12 December 2020

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12 December 2020

Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.

1 reference

12 December 2020

Cytochrome c oxidase deficiency in menkes kinky hair disease

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12 December 2020

Reye's syndrome: a clinical review.

1 reference

12 December 2020

Mitochondrial abnormalities in fibroblast line GM3093 defective in oxidative metabolism

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12 December 2020

Respiratory control and oxidative phosphorylation in the dystrophic muscle

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12 December 2020

The ADP/ATP carrier as a mitochondrial auto-antigen--facts and perspectives

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12 December 2020

Mitochondrial myopathies

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12 December 2020

Thiamine-responsive inborn errors of metabolism

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12 December 2020

Alcohol-induced mitochondrial changes in the liver

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12 December 2020

The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies

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12 December 2020

Morphologic features of hypermetabolic mitochondrial disease. A light microscopic, histochemical and electron microscopic study

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12 December 2020

Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.

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12 December 2020

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

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12 December 2020

Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts.

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12 December 2020

Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia

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12 December 2020

Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria

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12 December 2020

Chloramphenicol and cardiotoxicity

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12 December 2020

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

1 reference

12 December 2020

On the site of action of the inhibition of the mitochondrial respiratory chain by lipoxygenase

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12 December 2020

Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case

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12 December 2020

Inhibition of mitochondrial oxidative phosphorylation by adriamycin

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12 December 2020

The protective effect of carnitine in human diphtheric myocarditis

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12 December 2020

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

1 reference

12 December 2020

Effect of acetaldehyde on fatty acid oxidation and ketogenesis by hepatic mitochondria

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12 December 2020

Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity

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12 December 2020

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

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12 December 2020

Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations

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12 December 2020

Complementation analysis of fatty acid oxidation disorders

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12 December 2020

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

1 reference

12 December 2020

Selective carnitine palmitoyltransferase deficiency in fibroblasts from a patient with muscle CPT deficiency

1 reference

12 December 2020

Riboflavin-responsive defects of beta-oxidation

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

12 December 2020

Kinetic alterations of cytochrome-c oxidase in cystic fibrosis

1 reference

12 December 2020

Myopathies due to enzyme deficiencies

1 reference

12 December 2020

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells

1 reference

12 December 2020

Development of ischemia-induced damage in defined mitochondrial subpopulations.

1 reference

12 December 2020

From the National Institute of Allergy and Infectious Diseases: Summary of a workshop on disease mechanisms and prospects for prevention of Reye's syndrome.

1 reference

12 December 2020

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00768393

1 reference

13 September 2017

1 reference

PubMed ID

3286631