Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency

Author:

Tomiko Kuhara,Toshihiro Shinka,Yoshito Inoue,Masahiro Matsumoto,Makoto Yoshino,Yusuke Sakaguchi,Isamu Matsumoto

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference15 articles.

1. Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and a-ketoglutarate dehydrogenase complexes;Haworth;Pediatrics,1976

2. Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and a-ketoglutarate dehydrogenase complexes): A cause of congenital chronic lactic acidosis in infancy;Robinson;Pediatr Res,1977

3. Lactic acidemia, neurologic deteriolation and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency;Robinson;Eur J Pediatr,1981

4. A defect in branched-chain amino acid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency;Taylor;Pediatr Res,1978

5. Yoshino M, Sakaguchi Y, Yamashita F, Kuhara T. Mastumoto I. Dihydrolipoyl dehydrogenase deficiency. Neuropediatrics, to be submitted.

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