✦ LIBER ✦

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

✍ Scribed by Eduard Orvisky; Joseph K Park; Mary E LaMarca; Edward I Ginns; Brian M Martin; Nahid Tayebi; Ellen Sidransky

Book ID: 117735409
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 239 KB
Volume: 76
Category: Article
ISSN: 1096-7192
DOI: 10.1016/s1096-7192(02)00117-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotype-genotype correlations in patie

Phenotype-genotype correlations in patients with Wilson Disease (WD)

✍ Peter Ferenci; Claudia Polli; Cathrin Smolarek; Karel Caca; Hartmuth Schmidt; Ga 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 107 KB

Gaucher disease among Chinese patients:

Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

✍ Francis Y.M. Choy; Weimin Zhang; Hui-Ping Shi; Agnes Zay; Tessa Campbell; Nelson 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 353 KB

Molecular screening of Japanese patients

Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypes

✍ Hiroshi Kawame; Kihei Maekawa; Yoshikatsu Eto 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 557 KB

Communicated by William S. Sly Gaucher disease is the most prevalent sphingolipidosis, characterized by genetic deficiency of lysosomal hydrolase glucocerebrosidase, and is inherited in an autosomal recessive manner. To characterize the molecular basis of Gaucher disease in Japan, we analyzed for th

Phenotype–genotype correlation in Sicili

Phenotype–genotype correlation in Sicilian patients with Hb H

✍ E. Mirabile; P. Samperi; A. Di Cataldo; A. Poli; M. La Spina; G. Schilirò 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB

Genotype–phenotype correlation in five P

Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications

✍ S Regis; R Biancheri; E Bertini; A Burlina; S Lualdi; MG Bianco; R Devescovi; A 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

Mutation screening and genotype-phenotyp

Mutation screening and genotype-phenotype correlation in 32 families with Wilson disease

✍ Muriel Bost; Alain Lachaux; Michèle Accominotti; Antoon Vandenberghe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti