๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency

โœ Scribed by K. M. Gibson; R. S. Wappner; S. Jooste; E. Erasmus; L. J. Mienie; E. Gerlo; B. Desprechins; L. De Meirleir


Book ID
110225116
Publisher
Springer
Year
1998
Tongue
English
Weight
72 KB
Volume
21
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


3-Methylglutaconic and 3-methylglutaric
โœ W. Lehnert; J. Scharf; U. Wendel ๐Ÿ“‚ Article ๐Ÿ“… 1985 ๐Ÿ› Springer ๐ŸŒ English โš– 336 KB

A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3meth