✦ LIBER ✦

Gaucher type 2 disease: Identification of a novel transversion mutation in a French-Irish patient

✍ Scribed by Choy, Francis Y.M.; Humphries, M. Lisa; Ben-Yoseph, Yoav

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 9 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980616)78:1<92::aid-ajmg19>3.0.co;2-j

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of two novel and four unc

Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients

✍ Choy, Francis Y. M.; Humphries, M. Lisa; Shi, HuiPing 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 1 views

Gaucher disease is the most prevalent lysosomal storage disease. It is panethnic and results from an inherited deficiency of glucocerebrosidase. Most mutations to date have been identified among Jewish and non-Jewish Caucasian patients; mutations in Chinese patients are largely unknown. We have perf

Type I Gaucher disease due to homozygosi

Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient

✍ Rockah, Rivka; Narinsky, Ronit; Hatskelzon, Lev; Frisch, Amos 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 5 KB

A 26-year-old Bedouin with moderate thrombocytopenia and enlarged spleen and liver was diagnosed as having type I Gaucher disease based on the presence of Gaucher cells in the bone marrow biopsy and enzymatic determination of glucocerebrosidase activity. Molecular analysis excluded 10 common mutatio

Type 1 Gaucher disease presenting with e

Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid ?-glucosidase mutation

✍ Wasserstein, Melissa P.; Martignetti, John A.; Zeitlin, Robert; Lumerman, Harry; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB

The finding of extensive lytic lesions in the mandible of a 19-year-old Ashkenazi Jewish woman led to the diagnosis of Type 1 Gaucher disease. She had extensive skeletal involvement, marked hepatosplenomegaly, and deficient acid ␤-glucosidase activity. Mutation analysis identified heteroallelism for

Mutation analysis of Gaucher disease pat

Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation

✍ Cormand, Bru; Harboe, Theresa L.; Gort, Laura; Campoy, Cristina; Blanco, Mariana 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 1 views

Gaucher disease (GD) is caused by a deficiency of ␤-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme. More than 100 mutations have been identified to date and their frequencies have been established in several populations, including Ashkenazi Jews, among whom the

Novel missense mutation (Y231C) in a Tur

Novel missense mutation (Y231C) in a Turkish patient with Canavan disease

✍ Rady, Peter L.; Vargas, Trini; Tyring, Stephen K.; Matalon, Reuben; Langenbeck, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i

Glucocerebrosidase mutations among chine

Glucocerebrosidase mutations among chinese neuronopathic and non-neuronopathic Gaucher disease patients

✍ Choy, Francis Y.M.; Wong, Karen; Shi, HuiPing 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

## To the Editor: Gaucher disease results from an inherited deficiency of the lysosomal enzyme glucocerebrosidase . Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type I Gaucher disease is the