✦ LIBER ✦

Biochemical and Molecular Genetic Correlation in Adenylosuccinate Lyase Deficiency

✍ Scribed by C. Salerno; C. Crifo

Publisher: John Wiley and Sons
Year: 2005
Weight: 8 KB
Volume: 36
Category: Article
ISSN: 0931-7597
DOI: 10.1002/chin.200510210

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

For Abstract see ChemInform Abstract in Full Text.

📜 SIMILAR VOLUMES

Prenatal diagnosis in adenylosuccinate l

Prenatal diagnosis in adenylosuccinate lyase deficiency

✍ Sandrine Marie; Jolanda W. A. M. Flipsen; Marinus Duran; Bwee Tien Poll-The; Fri 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 73 KB 👁 2 views

Adenylosuccinate lyase deficiency, an autosomal recessive inborn error of purine synthesis, provokes accumulation in body fluids of succinylaminoimidazolecarboxamide riboside and succinyladenosine, the dephosphorylated derivatives of the two substrates of the enzyme. Most patients display severe psy

Biochemical and molecular correlations i

Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency

✍ Georgirene D. Vladutiu 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

Carnitine palmitoyltransferase II (CPT II) deficiency is the most common lipid myopathy in adults and is characterized by exerciseinduced pain, stiffness, and myoglobinuria. Retrospective analysis of patients with CPT II deficiency has made it possible to correlate the presence of disease-causing mu

Biochemical and Clinical Problems in Mol

Biochemical and Clinical Problems in Molecular Genetics

📂 Article 📅 1963 🏛 John Wiley and Sons 🌐 English ⚖ 383 KB 👁 1 views

Intrafamilial variability in the phenoty

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: A report on three patients

✍ Edery, Patrick ;Chabrier, St�phane ;Ceballos-Picot, Ir�ne ;Marie, Sandrine ;Vinc 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 2 views

Mutation analysis in adenylosuccinate ly

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

✍ Sandrine Marie; Harry Cuppens; Michel Heuterspreute; Martine Jaspers; Eduardo Za 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 1 views

The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked

Isolated complex I deficiency in childre

Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

✍ J.L.C.M. Loeffen; J.A.M. Smeitink; J.M.F. Trijbels; A.J.M. Janssen; R.H. Triepel 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 2 views

## Communicated by Johannes Zschocke We retrospectively examined clinical and biochemical characteristics of 27 patients with isolated enzymatic complex I deficiency (established in cultured skin fibroblasts) in whom common pathogenic mtDNA point mutations and major rearrangements were absent. Clin