✦ LIBER ✦

Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype

✍ Scribed by McCullough, Beth A. ;Yudkoff, Marc ;Batshaw, Mark L. ;Wilson, James M. ;Raper, Steven E. ;Tuchman, Mendel

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 205 KB
Volume: 93
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000814)93:4<313::aid-ajmg11>3.0.co;2-m

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and biochemical heterogeneity i

Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 1 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo

Clinical and molecular characterization

Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

✍ Ulrika Wester; Marie-Louise Bondeson; Christina Edeby; Göran Annerén 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 2 views

## Abstract The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal growth retardation, and sometimes malformations of the heart and brain. The individuals have some typical features, which might be easy to overlook and which are:

Retrospective survey of urea cycle disor

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency

✍ Matsuda, I. ;Nagata, N. ;Matsuura, T. ;Oyanagi, K. ;Tada, K. ;Narisawa, K. ;Kita 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB 👁 1 views

Asymptomatic and late-onset ornithine tr

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family

✍ Ausems, M. G. E. M.; Bakker, E.; Berger, R.; Duran, M.; van Diggelen, O. P.; Keu 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 101 KB 👁 1 views

We describe a 4-generation family in which a previously healthy 10-year-old boy died of late-onset ornithine transcarbamylase (OTC) deficiency. Pedigree analysis and allopurinol loading tests in female relatives were not informative. A missense mutation (A208T) in the OTC gene was detected in the de

Dihydropteridine reductase deficiency: P

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

✍ Irma Dianzani; Luisa de Sanctis; Peter M. Smooker; Tamara J. Gough; Carla Alliau 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB 👁 1 views

## Communicated by Randy Eisensmith Dihydropteridine reductase (DHPR) is an enzyme involved in recycling of tetrahydrobiopterin (BH 4 ), the cofactor of the aromatic amino acid hydroxylases. Its deficiency is characterized by hyperphenylalaninemia due to the secondary defect of phenylalanine hydro

Functional analysis of mutations in the

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype–phenotype correlation

✍ Yuhuan Wang; Franco Taroni; Barbara Garavaglia; Nicola Longo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 1 views

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease is caused by mutations in the novel organic cation transporter OCTN2 (SLC22A5 gene). The disease can present early in life with hypoketotic hypoglycemia or la