✦ LIBER ✦

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

✍ Scribed by L. Pinto; P. Zen; R. Rosa; G. Paskulin; A. Perla; L. Barea; M. R. Baumgartner; M. F. Dantas; B. Fowler; R. Giugliani; C. Vargas; M. Wajner; C. Graziadio

Publisher: Springer
Year: 2006
Tongue: English
Weight: 136 KB
Volume: 29
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-006-0188-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Metabolic stroke in isolated 3-methylcro

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

✍ C. Steen; E. R. Baumgartner; M. Duran; W. Lehnert; T. Suormala; R. Fingerhut; M. 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 167 KB

Isolated biotin-resistant 3-methylcroton

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs

✍ F. A. Beemer; K. Bartlett; M. Duran; H. K. Ghneim; S. K. Wadman; L. Bruinvis; D. 📂 Article 📅 1982 🏛 Springer 🌐 English ⚖ 476 KB

Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and cultured fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response t

3-Hydroxyisovalerylcarnitine in 3-methyl

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency

✍ J. L. K. van Hove; S. L. Rutledge; M. A. Nada; S. G. Kahler; D. S. Millington 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 637 KB

An asymptomatic infant with isolated 3-m

An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease

✍ K. Ihara; R. Kuromaru; Y. Inoue; T. Kuhara; I. Matsumoto; M. Yoshino; J. Fukushi 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 114 KB

Severe hypoglycaemia in isolated 3-methy

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

✍ H. G. M. Oude Luttikhuis; G. Touati; D. Rabier; M. Williams; C. Jakobs; J. M. Sa 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 97 KB

Glucose metabolism in a child with 3-hyd

Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency

✍ B. François; C. Bachmann; R. B. H. Schutgens 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 189 KB