File:Morbus Fabry male with mother.jpg

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English: Male patient with Fabry disease (left, child) and a heterozygote for Fabry disease (right, mother). The male patient is 21 years old and presents pain in hands and achroparestesias, temperature intolerance, hypohidrosis, and proteinuria. He presents a 30delG in the a-GAL gene. The mother is 62 years old and has diabetes mellitus, cardiopathy and proteinuria. She is a carrier of 30delG in the a-GAL gene. Image use authorized by patients.
Deutsch: Ein 21jähriger männlicher Patient mit Morbus Fabry (linkes Bild) und seine 62jährige heterozygote Mutter (rechtes Bild). Der Sohn klagt über Schmerzen in den Händen (Akroparästhesie), Wärmeintoleranz, Anhidrose und Proteinurie. Er hat - wie seine Mutter auch - eine 30delG-Mutation im GAL-Gen. Sie selbst leidet an Diabetes mellitus, Kardiomyopathie und Proteinurie. Die Nutzung der Bilder ist von den Patienten freigegeben.
Date article published: 28 May 2010 [1]
Source Louise LC Pinto Taiane A Vieira, Roberto Giugliani and Ida VD Schwartz: Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review In: Orphanet Journal of Rare Diseases 2010 5:14 doi:10.1186/1750-1172-5-14
Author Louise LC Pinto Taiane A Vieira, Roberto Giugliani and Ida VD Schwartzn
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current19:28, 31 August 2011Thumbnail for version as of 19:28, 31 August 20111,200 × 582 (119 KB)Kuebi{{Information |Description={{en|Male patient with Fabry disease (left, child) and a heterozygote for Fabry disease (right, mother). The male patient is 21 years old and presents pain in hands and achroparestesias, temperature intolerance, hypohidrosis, an

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