✦ LIBER ✦

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

✍ Scribed by Daniela Melis; Rossella Fulceri; Giancarlo Parenti; Paola Marcolongo; Rosanna Gatti; Rossella Parini; Enrica Riva; Roberto Della Casa; Enrico Zammarchi; Generoso Andria; Angelo Benedetti

Publisher: Springer
Year: 2005
Tongue: English
Weight: 221 KB
Volume: 164
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-005-1657-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Granulocyte colony-stimulating factor in

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

✍ Gepke Visser; Jan Rake; Philippe Labrune; James V. Leonard; Shimon Moses; Kurt U 📂 Article 📅 2002 🏛 Springer 🌐 English ⚖ 96 KB

Twenty-two novel mutations in the lysoso

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

✍ Monique M.P. Hermans; Dik van Leenen; Marian A. Kroos; Clare E. Beesley; Ans T. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 1 views

## Communicated by Elizabeth Neufeld Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid a-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investiga

Vitamin E supplementation improves neutr

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b

✍ D. Melis; R. Della Casa; R. Parini; M. Rigoldi; C. Cacciapuoti; P. Marcolongo; A 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 140 KB

Two extremes of the clinical spectrum of

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

✍ Marian A. Kroos; Magna Van der Kraan; Otto P. Van Diggelen; Wim J. Kleijer; Arno 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 1 views

Mutation analysis was performed in a nonconsanguineous Dutch caucasian family with a grandfather presenting the first symptoms of glycogen storage disease type II (acid alpha-glucosidase deficiency) in the sixth decade of life and a grandchild with onset of symptoms shortly after birth. The grandfat

Implications for genotype–phenotype pred

Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature

✍ Erin M. Miller; Robert Hopkin; Liming Bao; Stephanie M. Ware 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 2 views

Parkinsonism in Gaucher's disease type 1

Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature

✍ Ichraf Kraoua; Jérôme Stirnemann; Maria João Ribeiro; Tiphaine Rouaud; Marc Veri 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 816 KB

## Abstract Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patie