✦ LIBER ✦

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

✍ Scribed by Roberta Battini; Vincenzo Leuzzi; Carla Carducci; Michela Tosetti; Maria C Bianchi; Chike B Item; Sylvia Stöckler-Ipsiroglu; Giovanni Cioni

Book ID: 117735450
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 121 KB
Volume: 77
Category: Article
ISSN: 1096-7192
DOI: 10.1016/s1096-7192(02)00175-0

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new case of creatine transporter defic

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

✍ Patricia Alcaide; Pilar Rodriguez-Pombo; Pedro Ruiz-Sala; Isaac Ferrer; Pedro Ca 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 379 KB

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 👁 2 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

Deficiency of the fifth component of com

Deficiency of the fifth component of complement in human subjects: Clinical, genetic and immunologic studies in a large kindred

✍ Ralph Snyderman; David T. Durack; Gale A. McCarty; Francis E. Ward; Linville Mea 📂 Article 📅 1979 🏛 Elsevier Science 🌐 English ⚖ 965 KB

A clinical and genetic study in a large

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

✍ Hiroki Takahashi; Kinya Ishikawa; Takeshi Tsutsumi; Hiroto Fujigasaki; Akihiro K 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 237 KB

Genetic and clinical peculiarities in a

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

✍ Natalia Mejia-Gaviria; Helena Gil-Peña; Eliecer Coto; Teresa M Pérez-Menéndez; F 📂 Article 📅 2010 🏛 BioMed Central 🌐 English ⚖ 346 KB

Clinical, electrophysiological, and mole

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

✍ Davies, N P 📂 Article 📅 2000 🏛 BMJ Publishing Group 🌐 English ⚖ 402 KB