Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency.

Literature DB >> 6894281

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

B H Robinson, J Taylor, S G Kahler, H N Kirkman.

Abstract

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1981 PMID： 6894281 DOI： 10.1007/bf00441708

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

× No keyword cloud information.

21 in total

1. Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.

Authors: F J Ballard; R W Hanson
Journal: Biochem J Date: 1967-09 Impact factor: 3.857

2. Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.

Authors: J P Van Biervliet; L Bruinvis; D Ketting; P K De Bree; C Van der Heiden; S K Wadman
Journal: Pediatr Res Date: 1977-10 Impact factor: 3.756

3. The development of pyruvate dehydrogenase in the subhuman primate Macaca mulatta.

Authors: B H Robinson; W G Sherwood; J Oei
Journal: Biol Neonate Date: 1977

4. Regulation of renal gluconeogenesis by calcium ions, hormones and adenosine 3':5'-cyclic monophosphate.

Authors: A Roobol; G A Alleyne
Journal: Biochem J Date: 1973-05 Impact factor: 3.857

5. A simplified method for the preparation of 14 C-labelled branched-chain -oxo acids.

Authors: H W Rüdiger; U Langenbeck; H W Goedde
Journal: Biochem J Date: 1972-01 Impact factor: 3.857

6. Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy.

Authors: B H Robinson; W G Sherwood
Journal: Pediatr Res Date: 1975-12 Impact factor: 3.756

7. Two cases of phosphoenolpyruvate carboxykinase deficiency.

Authors: F A Hommes; K Bendien; J D Elema; H J Bremer; I Lombeck
Journal: Acta Paediatr Scand Date: 1976-03

8. Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.

Authors: D F Farrell; A F Clark; C R Scott; R P Wennberg
Journal: Science Date: 1975-03-21 Impact factor: 47.728

9. Lipoamide dehydrogenase in cultured human skin fibroblasts.

Authors: S B Melançon; L Dallaire; M Potier
Journal: Clin Chim Acta Date: 1978-07-01 Impact factor: 3.786

10. A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.

Authors: J P Blass; J Avigan; B W Uhlendorf
Journal: J Clin Invest Date: 1970-03 Impact factor: 14.808

15 in total

Review 1. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors: Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal: Mol Genet Metab Date: 2011-10-07 Impact factor: 4.797

2. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors: Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal: Mol Genet Metab Date: 2012-07 Impact factor: 4.797

9. Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Authors: D T Chuang; L S Ku; D S Kerr; R P Cox
Journal: Am J Hum Genet Date: 1982-05 Impact factor: 11.025

Review 10. Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase.

Authors: B H Robinson
Journal: J Bioenerg Biomembr Date: 1988-06 Impact factor: 2.945