(Q41180888)

27 September 2017

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title

The treatment of congenital lactic acidoses (English)

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27 September 2017

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A A Morris

1

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PubMed ID

8884580

27 September 2017

J V Leonard

series ordinal

2

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27 September 2017

1 January 1996

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Journal of Inherited Metabolic Disease

27 September 2017

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27 September 2017

19

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27 September 2017

4

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27 September 2017

573-580

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https://scigraph.springernature.com/pub.10.1007/bf01799117

27 September 2017

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cites work

MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799117

Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus

21 January 2018

1 reference

12 December 2020

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.

1 reference

12 December 2020

El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

1 reference

12 December 2020

A mitochondrial myopathy in an infant with lactic acidosis.

1 reference

12 December 2020

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid

1 reference

12 December 2020

Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy

1 reference

12 December 2020

Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS.

1 reference

12 December 2020

Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease

1 reference

12 December 2020

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

1 reference

12 December 2020

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

1 reference

12 December 2020

Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

1 reference

12 December 2020

Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis

1 reference

12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

12 December 2020

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

1 reference

12 December 2020

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

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12 December 2020

Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy

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12 December 2020

Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency

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12 December 2020

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

1 reference

12 December 2020

Metabolic disorders of embryogenesis

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12 December 2020

Transient improvement of congenital lactic acidosis in a male infant with pyruvate decarboxylase deficiency treated with dichloroacetate

1 reference

12 December 2020

Ketonic diet in the management of pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone

1 reference

12 December 2020

Long-term coenzyme Q10 therapy for a mitochondrial encephalomyopathy with cytochrome c oxidase deficiency: a 31P NMR study

1 reference

12 December 2020

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

1 reference

12 December 2020

Gene therapy for mitochondrial DNA defects: is it possible?

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12 December 2020

Treatment of complex I deficiency with riboflavin

1 reference

12 December 2020

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

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

NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin

1 reference

12 December 2020

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

1 reference

12 December 2020

Metabolic recovery after exercise and the assessment of mitochondrial function in vivo in human skeletal muscle by means of 31P NMR.

1 reference

12 December 2020

Mitochondrial myopathy and cardiomyopathy in siblings

1 reference

12 December 2020

Thiamine Responsive Pyruvate Dehydrogenase Deficiency

1 reference

12 December 2020

Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegia

1 reference

12 December 2020

Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders

1 reference

12 December 2020

Vitamin-responsive complex I deficiency in a myopathic patient with increased activity of the terminal respiratory chain and lactic acidosis

1 reference

12 December 2020

Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses?

1 reference

12 December 2020

31P NMR examination of two patients with NADH-CoQ reductase deficiency

1 reference

12 December 2020

31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

1 reference

12 December 2020

Hydroperoxide metabolism in mammalian organs

1 reference

12 December 2020

A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults. The Dichloroacetate-Lactic Acidosis Study Group

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799117

1 reference

PubMed ID

8884580

Dimensions Publication ID

27 September 2017

0 references

1 reference

PubMed ID

8884580