Huntington's Disease

Huntington's disease is a hereditary disease caused by a defect in a single gene on Chromosome 4 that is inherited in an autosomal dominant fashion. The defect causes a part of DNA, called a CAG...

Eye disease

Gaucher's disease

Gaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances accumulate to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, brain. This accumulation of...

Graves' disease

Cutaneous disease

Amicus treatment for Fabry disease fails in study

A potential treatment from Amicus Therapeutics and GlaxoSmithKline for Fabry disease, a rare disorder, missed its goals in late-stage testing, triggering a sell-off in Amicus' stock in after-hours tra...

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

JCR Of Japan, GSK Ink Pact For Marketing Treatment For Fabry Disease

Japan's JCR Pharmaceuticals has entered an agreement with GlaxoSmithKline to have the U.K.-based firm market a drug for treating Fabry disease, a rare heart ailment.

GSK raises stake in Amicus for Fabry drug

GlaxoSmithKline is to increase ownership in Amicus Therapeutics as the firms extend their collaboration to find a new drug for Fabry disease.  GSK’s $18.6 million investment will bring its stak...

Fabry disease: Enzyme replacement in Fabry disease

GSK and Amicus still upbeat on Fabry disease drug despite Phase III failure

Top-line data show that the first of two Phase III global registration trials (Study 011), investigating GlaxoSmithKline and Amicus Therapeutics' oral migalastat monotherapy in patients with Fabry di...

Novel Fabry Drug Misses Target

(MedPage Today) -- An investigational oral monotherapy for Fabry disease -- migalastat HCl -- failed to significantly improve outcomes in a phase III trial, the drug's makers announced.

GlaxoSmithKline expands Fabry disease deal with Amicus, upping stake in the firm

Moving forward with its foray into the rare disease sector, UK pharma giant GlaxoSmithKline (LSE: GSK) and USA-based biotech firm Amicus Therapeutics (Nasdaq: FOLD) expanded their collaboration to dev...

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.

Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and reve...

The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female...

Case report: long-term outcome post-heart transplantation in a woman with Fabry's disease.

Fabry's disease is an X-linked recessive disorder that results from the deficiency of alpha-galactosidase A and causes the accumulation of globotriaosylceramide (Gb3) in different tissues. It leads to...

Renal complications of Fabry disease in children.

Fabry disease is an X-linked α-galactosidase A deficiency, resulting in accumulation of glycosphingolipids, especially globotriaosylceramide, in cells in different organs in the body. Renal failure i...

A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease.

Fabry disease is a rare X-linked recessive glycosphingolipid storage disease that is caused by a deficiency of the lysosomal α-galactosidase A (GLA) enzyme, encoded by the GLA gene. This deficiency l...