(Q42468171)

1 November 2017

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria (English)

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1 November 2017

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A Kohlschütter

1

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1 November 2017

A Behbehani

2

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1 November 2017

U Langenbeck

3

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1 November 2017

M Albani

4

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1 November 2017

P Heidemann

5

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1 November 2017

G Hoffmann

6

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1 November 2017

J Kleineke

7

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1 November 2017

W Lehnert

8

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1 November 2017

U Wendel

9

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1 November 2017

language of work or name

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1 February 1982

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European Journal of Pediatrics

1 November 2017

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1 November 2017

138

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1 November 2017

1

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1 November 2017

32-37

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https://scigraph.springernature.com/pub.10.1007/bf00442325

1 November 2017

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cites work

Transport of tricarboxylic acid cycle intermediates by membrane vesicles from renal brush border

1 reference

12 December 2020

Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro

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12 December 2020

Correction of the defective sulfatide degradation in cultured fibroblasts from patients with metachromatic leucodystrophy

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12 December 2020

Screening for organic acidurias and amino acidopathies in newborns and children

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12 December 2020

Lipoamide dehydrogenase in cultured human skin fibroblasts

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12 December 2020

Citrate and alpha‐ketoglutarate in cerebrospinal fluid and blood

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12 December 2020

Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase

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12 December 2020

[Single injection clearance of alpha-ketoglutarate in chronic renal failure (author's transl)].

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12 December 2020

[Lactic acidosis, hypoglycemia and hepatomegaly due to hereditary defect in hepatic fructose-1, 6-diphosphatase]

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12 December 2020

Correlations between branched-chain amino acids and branched-chain alpha-keto acids in blood in maple syrup urine disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Quinoxalinol derivatives of aliphatic 2-oxocarboxylic acids. Infrared and mass spectra of the O-trimethylsilylated compounds

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12 December 2020

Infantile Chronic Necrotizing Encephalopathy1

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12 December 2020

Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia

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12 December 2020

Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts

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12 December 2020

Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency

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12 December 2020

Glutaric aciduria: biochemical and morphologic considerations.

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12 December 2020

[The ketonemia problem in childhood ("acetonemic vomiting"). Clinical and experimental studies. III. Intermediate carbohydrate metabolism in transitory ketonemias.]

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12 December 2020

Cerebrospinal fluid lactate-pyruvate ratio in normal and asphyxiated neonates

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12 December 2020

Studies on the Mechanism of Activation of Adipose Tissue Pyruvate Dehydrogenase by Insulin

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12 December 2020

Lactic acidosis in childhood

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12 December 2020

Intermittently Progressive Dyskinetic Syndrome in Glutaric Aciduria

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12 December 2020

Glutaric aciduria: clinical and laboratory findings in two brothers

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12 December 2020

Glutaric aciduria; A “new” disorder of amino acid metabolism

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12 December 2020

Friedreich's ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets

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12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020

A simulation study of brain compartments. Metabolism of glutamate and related substances in mouse brain

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12 December 2020

Darkening of from patients treated eith L-Dopa

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12 December 2020

Identifiers

DOI

10.1007/BF00442325

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1 November 2017

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