✦ LIBER ✦

Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes

✍ Scribed by X. Fu; P. Rinaldo; S. H. Hahn; H. Kodama; S. Packman

Book ID: 111538541
Publisher: Springer
Year: 2003
Tongue: English
Weight: 128 KB
Volume: 26
Category: Article
ISSN: 0141-8955
DOI: 10.1023/a:1024027630589

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical Phenotype and Mutation Spectrum

Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency

✍ Choi, J.-H.; Jin, H.-Y.; Lee, B.; Ko, J.; Lee, J.-J.; Kim, G.-H.; Jung, C.-W.; L 📂 Article 📅 2011 🏛 Thieme Medical Publishers 🌐 English ⚖ 223 KB

Mutation analysis of the ATP7B gene and

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease

✍ Slavka Vrabelova; Ondrej Letocha; Marek Borsky; Libor Kozak 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 438 KB

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

CYP21 Gene Mutation Analysis in 198 Pati

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

✍ Stikkelbroeck, Nike M. M. L.; Hoefsloot, Lies H.; de Wijs, Ilse J.; Otten, Barto 📂 Article 📅 2003 🏛 Endocrine Society 🌐 English ⚖ 113 KB

Mutational spectrum of the succinate sem

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

✍ Shinjiro Akaboshi; Boris M. Hogema; Andrea Novelletto; Patrizia Malaspina; Gajja 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB

Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from

The Use of 3d Motion Analysis in a Patie

The Use of 3d Motion Analysis in a Patient with an Atypical Juvenile Neuronal Ceroid Lipofuscinoses Phenotype with CLN1 Mutation and Deficient PPT Activity

✍ M. Galli; D. Ferrario; P. Patti; R. Freedland; V. Cimolin; M. Gavin; M. T. Velin 📂 Article 📅 2011 🏛 Springer US 🌐 English ⚖ 254 KB