Therapy of mitochondrial disorders (Q39598522)

13 September 2017

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title

Therapy of mitochondrial disorders (English)

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13 September 2017

Przyrembel H

1

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13 September 2017

publication date

1 January 1987

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Journal of Inherited Metabolic Disease

13 September 2017

published in

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13 September 2017

volume

10 Suppl 1

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13 September 2017

page(s)

129-146

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Pyruvate Carboxylase Deficiency and Lactic Acidosis in a Retarded Child without Leigh's Disease

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FBF01812853

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%2FBF01812853

Trichopoliodystrophy. I. Report of a case and biochemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01812853

Recurrent Myoglobinuria Due to Muscle Carnitine Palmityl Transferase Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01812853

Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01812853

31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle.

21 January 2018

1 reference

12 December 2020

Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate.

1 reference

12 December 2020

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

1 reference

12 December 2020

A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine.

1 reference

12 December 2020

Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency

1 reference

12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

1 reference

12 December 2020

Treatment of Kearns-Sayre syndrome with coenzyme Q10

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

1 reference

12 December 2020

A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

1 reference

12 December 2020

Methylene-blue for riboflavin-unresponsive glutaricaciduria type II.

1 reference

12 December 2020

Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment.

1 reference

12 December 2020

Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency

1 reference

12 December 2020

Carnitine-palmityl-transferase deficiency

1 reference

12 December 2020

Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid.

1 reference

12 December 2020

Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

1 reference

12 December 2020

Treatment of lactic acidosis with dichloroacetate

1 reference

12 December 2020

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

1 reference

12 December 2020

The metabolic effects of dichloroacetate

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin

1 reference

12 December 2020

Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.

1 reference

12 December 2020

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

12 December 2020

Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin

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12 December 2020

Treatment of lactic acidosis.

1 reference

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

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

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12 December 2020

A mitochondrial encephalomyopathy. A combined 31P magnetic resonance and biochemical investigation

1 reference

12 December 2020

Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01812853

1 reference

release_asuackyw3jefvcax373ekm5rvy

13 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/asuackyw3jefvcax373ekm5rvy

24 November 2022

mapped directly with Wikidata item

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