CONGENITAL LACTIC ACIDOSIS, α-KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY-Reference-Cited by-同舟云学术

CONGENITAL LACTIC ACIDOSIS, α-KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY

Published:1982-01 Issue:1 Volume:71 Page:167-171
ISSN:0803-5253
Container-title:Acta Paediatrica
language:en
Short-container-title:Acta Paediatrica

Author:

MUNNICH A.,SAUDUBRAY J. M.,TAYLOR J.,CHARPENTIER C.,MARSAC C.,ROCCHICCIOLI F.,AMEDEE-MANESME O.,COUDE F. X.,FREZAL J.,ROBINSON B. H.

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1982.tb09393.x/fullpdf

Reference12 articles.

1. Deficiency of Dihydrolipoyl Dehydrogenase (a Component of the Pyruvate and α-Ketoglutarate Dehydrogenase Complexes): A Cause of Congenital Chronic Lactic Acidosis in Infancy

2. SERUM THYMIC FACTOR (SF) IN PRIMARY IMMUNODEFICIENCY DISEASES

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

4. Quantitative gas chromatography and single-ion detection of aliphatic α-keto acids from urine as their o-trimethylsilylquinoxalinol derivatives

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

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