(Q40881676)

24 September 2017

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title

Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies (English)

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24 September 2017

J M Trijbels

1

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24 September 2017

H R Scholte

2

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24 September 2017

W Ruitenbeek

3

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24 September 2017

R C Sengers

4

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24 September 2017

A J Janssen

5

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24 September 2017

H F Busch

6

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24 September 2017

1 March 1993

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European Journal of Pediatrics

24 September 2017

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24 September 2017

152

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24 September 2017

3

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24 September 2017

178-184

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https://scigraph.springernature.com/pub.10.1007/bf01956139

24 September 2017

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cites work

Blood sampling technique for lactate and pyruvate estimation in children

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01956139

Enzyme activities of the mitochondrial energy generating system in skeletal muscle tissue of preterm and fullterm neonates

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01956139

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

21 January 2018

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12 December 2020

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

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12 December 2020

Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies

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12 December 2020

14CO2 production is no adequate measure of [14C]fatty acid oxidation.

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12 December 2020

Carnitine deficiency, mitochondrial dysfunction and the heart. Identical defect of oxidative phosphorylation in muscle mitochondria in cardiomyopathy due to carnitine loss and in Duchenne muscular dystrophy

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12 December 2020

Mitochondrial myopathies. Clinical, morphological and biochemical aspects

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12 December 2020

Maturation of Mitochondrial and other Isoenzymes of Creatine Kinase in Skeletal Muscle of Preterm Born Infants

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12 December 2020

The biochemical basis of mitochondrial diseases

1 reference

12 December 2020

Defect in succinate oxidation by isolated muscle mitochondria in a patient with symmetrical lesions in the basal ganglia

1 reference

12 December 2020

Methods for study of normal and abnormal skeletal muscle mitochondria

1 reference

12 December 2020

Intravenous pyruvate loading test in Leigh syndrome

1 reference

12 December 2020

Mitochondrial myopathies: multiple enzyme defects in the respiratory chain

1 reference

12 December 2020

NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with leigh syndrome: Implications for the diagnosis of inborn errors of the respiratory chain

1 reference

12 December 2020

Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

1 reference

12 December 2020

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

1 reference

12 December 2020

The use of chorionic villi in prenatal diagnosis of mitochondriopathies

1 reference

12 December 2020

Postmortem changes in mitochondrial respiratory enzymes in brain and a preliminary observation in Parkinson's disease.

1 reference

12 December 2020

The concentration of blood components related to fuel metabolism during prolonged fasting in children.

1 reference

12 December 2020

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

12 December 2020

The clinical features of mitochondrial myopathy.

1 reference

12 December 2020

Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

1 reference

12 December 2020

Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia.

1 reference

12 December 2020

Secondary mitochondrial pathology

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

Identifiers

DOI

10.1007/BF01956139

1 reference

24 September 2017

1 reference