✦ LIBER ✦

Metabolic abnormalities in a patient with muscular carnitine deficiency

✍ Scribed by O. Adam; C. Keller; C. Barth; G. Wolfram

Book ID: 105519295
Publisher: Springer
Year: 1981
Tongue: English
Weight: 114 KB
Volume: 4
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf02263626

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Metabolic effects of carnitine medicatio

Metabolic effects of carnitine medication in a patient with multiple acyl-CoA dehydrogenation deficiency

✍ N. Gregersen; M. Fjord Christensen; S. Kølvraa 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 235 KB

Selective carnitine palmitoyltransferase

Selective carnitine palmitoyltransferase deficiency in fibroblasts from a patient with muscle CPT deficiency

✍ Dr. T. P. Pula; S. R. Max; H. R. Zielke; M. Chacon; P. Baab; M. Gumbinas; W. D. 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 322 KB 👁 2 views

A patient with lethal cardiomyopathy and

A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency

✍ K. E. Niezen-Koning; F. J. Spronsen; L. Ijlst; R. J. A. Wanders; M. Brivet; M. D 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 149 KB

Begnign duchenne muscular dystrophy in a

Begnign duchenne muscular dystrophy in a patient with growth hormone deficiency

✍ Zatz, Mayana ;Betti, R. T. B. ;Levy, J. A. 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 2 views

Carnitine metabolism in patients with ch

Carnitine metabolism in patients with chronic liver disease

✍ S. Krähenbühl; J. Reichen 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

with consequent organ dysfunction. Carnitine metabolism Carnitine metabolism was studied in 79 patients with could be disturbed by a variety of mechanisms in patients chronic liver disease, including 22 patients with noncirwith chronic liver disease. Dietary intake of carnitine could rhotic liver di

Molecular analysis in spanish patients w

Molecular analysis in spanish patients with muscle carnitine palmitoyltransferase deficiency

✍ Miguel A. Martín; Juan C. Rubio; Fernando De Bustos; Pilar Del Hoyo; Yolanda Cam 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 2 views

The most common mutation in muscle carnitine palmitoyltransferase II (CPT II) deficiency is a missense mutation that replaces a leucine for a serine residue at amino acid position 113 of the CPT II protein (S113L). We performed molecular analysis in a group of 14 Spanish patients with CPT II deficie