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Neurological Manifestation of Fabry Disease – A Case Report [PDF]

, 2009
Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme a-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including ...
Milan Bitunjac +3 more
core +1 more source

Progressive hearing loss in Fabry's disease: a case report [PDF]

, 2018
Fabry's disease is a chromosomal X-linked inherited disease, which causes a lack of the lysosomal alpha-galactosidase A enzyme leading to a cellular accumulation of glycosphingolipids.
Barras, Florian, Maire, Raphaël
core

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core

Female Fabry disease patients and X-chromosome inactivation [PDF]

, 2018
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source

Towards a one‐time cure for Fabry disease: Lentivirus‐mediated haematopoietic stem and progenitor cell gene therapy

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Rina Kansal
wiley +1 more source

Modern Approach to Fabry Disease Diagnosis and Management in Children

Вопросы современной педиатрии
Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement.
Olga Ya. Smirnova +5 more
doaj +1 more source

Usefulness of dermoscopy in anogenital warts: A descriptive study of 30 cases