A reference manual for self-directed patient research. It contains full Internet references, essentials and advanced studies and chapter glossaries.

Sep 1, 2002 · The Official Parent's Sourcebook on Fabry's Disease by ICON Health Publications, September 2002, Icon Health Publications edition, Paperback in English

Fabry disease (FD) is an X-linked rare multisystemic lysosomal storage disorder resulting from α-galactosidase A (α-Gal A) deficiency and is disease-specific, but not curatively treatable with …

Sep 9, 2002 · Part I explores basic techniques to researching fabry's disease (e.g. finding guidelines on diagnosis, treatments, and prognosis), followed by a number of topics, including …

In males with “classical variants” (leucocyte enzyme activity <5% and a classical phenotype) Fabry-specific therapy should be considered at diagnosis. In adult females and males with …

While there is currently no cure for individuals affected by Fabry disease, this booklet explores how best to understand and manage the disease. It draws on the experiences of patients, …

Jul 4, 2023 · Fabry disease is a multi-systemic, X-linked lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in lysosomal accumulations of neutral …

Fabry disease (FD) is a relatively rare X-linked hereditary disease caused by mutations in the GLA gene that results in deficient α-galactosidase A (α-Gal A) enzyme activity.

Oct 18, 2008 · Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The consequent abnormal …

Updated monitoring and treatment guidelines for pediatric patients with Fabry disease have recently been published. Expert physician panels were convened to develop updated, specic …