Neonatal presentations of mitochondrial metabolic disorders (Q33637035)

28 July 2017

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title

Neonatal presentations of mitochondrial metabolic disorders (English)

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28 July 2017

Sue CM

1

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28 July 2017

Hirano M

series ordinal

2

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28 July 2017

DiMauro S

series ordinal

3

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28 July 2017

De Vivo DC

series ordinal

4

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28 July 2017

1 April 1999

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28 July 2017

Seminars in Perinatology

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28 July 2017

23

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28 July 2017

2

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28 July 2017

113-124

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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

28 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Primary and secondary alterations of neonatal carnitine metabolism.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Genetic heterogeneity in Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

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https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia

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https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Prenatal diagnosis of pyruvate carboxylase deficiency

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https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A fourth case of fumarase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Variability of clinical presentation in fumarate hydratase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Fatal combined defects in mitochondrial multienzyme complexes in two siblings

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Benign reversible muscle cytochrome c oxidase deficiency: a second case

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Fatal neonatal hepatocellular deficiency with lactic acidosis: a defect of the respiratory chain

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Fatal neonatal liver failure and mitochondrial cytopathy: an observation with antenatal ascites

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Deficiency of the voltage-dependent anion channel: a novel cause of mitochondriopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Protein sorting in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Clinical manifestations of mitochondrial DNA depletion.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

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https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Mitochondrial encephalomyopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Clinical aspects of mitochondrial disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Mitochondrial DNA mutation and Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Maternally inherited Leigh syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

Mitochondrial disorder associated with newborn cardiopulmonary arrest

1 reference

https://api.crossref.org/works/10.1016%2FS0146-0005%2899%2980045-7

7 January 2021

10.1016/S0146-0005(99)80045-7

Identifiers

DOI

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28 July 2017

1 reference