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Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy

✍ Scribed by Masaki Takao; Taisuke Mori; Hideki Orikasa; Haengphil Oh; Kinuko Suzuki; Atsuo Koto; Kazuto Yamazaki


Publisher
Springer
Year
2007
Tongue
English
Weight
330 KB
Volume
451
Category
Article
ISSN
1432-2307

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Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of the lysosomal enzyme ␣-galactosidase A (␣-Gal A). A rapid, reliable, and universal linkage method was developed for molecular carrier detection and prenatal diagnosis. By d

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## Abstract The pathophysiology of neuropathic pain in Fabry's disease (FD) is still largely unknown. Seven FD patients were studied by laser evoked potentials (LEPs) to assess the function of the AΞ΄ and C fibers. Laser pulses were delivered on the skin of the hand and perioral region at painful in