𝔖 Bobbio Scriptorium
✦   LIBER   ✦

An asymptomatic variant of maple syrup urine disease without organic aciduria

✍ Scribed by M. L. Cabello; A. M. Garcia; J. Dalmau; C. Dominguez; C. Conde


Publisher
Springer
Year
1994
Tongue
English
Weight
130 KB
Volume
17
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mild variant of maple syrup urine diseas
✍ Soichi Kodama; Atsusi Seki; Michisada Hanabusa; Yorihiko Morisita; Takasi Sakura πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 312 KB

Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quant

Maple syrup urine disease variant: Repor
✍ Koepp, P. ;Rybak, Ch. ;RοΏ½diger, H. W. ;Wendel, U. πŸ“‚ Article πŸ“… 1974 πŸ› Springer-Verlag βš– 413 KB

Clinical course and laboratory findings including enzymatic studies in leukocytes and cultured fibroblasts are reported in an infant with a variant form of maple-syrup urine disease. Presenting symptoms in the age of 7 months were coma, ataxia and gross developmental retardation. Therapy consisted

Identification of twelve novel mutations
✍ Marco Henneke; Nadine Flaschker; Christoph Helbling; Martina MΓΌller; Peter Schad πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 39 KB

Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain Ξ±-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 Ξ± (BCKDHA), E1 Ξ² (BCKDHB) and E2 (DBT) are known to r