✦ LIBER ✦

OPA3mutation screening in patients with unexplained 3-methylglutaconic aciduria

✍ Scribed by K. Neas; B. Bennetts; K. Carpenter; R. White; E. P. Kirk; M. Wilson; R. Kelley; I. Baric; J. Christodoulou

Publisher: Springer
Year: 2005
Tongue: English
Weight: 143 KB
Volume: 28
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-005-0525-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

3-Methylglutaconic aciduria in a patient

3-Methylglutaconic aciduria in a patient with Pearson syndrome

✍ U. Lichter-Konecki; F. K. Trefz; A. Rötig; A. Munnich; A. Pfeil; H. J. Bremer 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 255 KB

Mutations in the AUH gene cause 3-methyl

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I

✍ T.B. Nga Ly; Verena Peters; K. Michael Gibson; Michael Liesert; Wolfgang Buckel; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB

The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be characterized at enzyme and DNA levels. The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-met

Episodes of severe metabolic acidosis in

Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria

✍ E. A. Haan; R. D. Scholem; J. J. Pitt; J. E. Wraith; G. K. Brown 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 481 KB

Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybut

3-methylglutaconic aciduria in a patient

3-methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism

✍ J. A. J. M. Bakkeren; R. C. A. Sengers; W. Ruitenbeek; J. M. F. Trijbels; L. Thu 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 139 KB

3-Methylglutaconic and 3-methylglutaric

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

✍ W. Lehnert; J. Scharf; U. Wendel 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 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

Mitochondrial complex deficiencies in a

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria

✍ G. T. N. Besley; M. Lendon; D. M. Broadhead; J. Till; L. E. Heptinstall; B. Phil 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 162 KB