A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis [PDF]
, 2016 Shinobu Fukumura +4 more
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Endocrine dysfunction in patients with Fabry disease [PDF]
, 2006 BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide.
Cianciaruso B +12 more
core
Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson–Fabry Disease [PDF]
Fabry disease (FD) is a recessive monogenic disease linked to chromosome X due to more than two hundred mutations in the alfa-galactosidase A (GLA) gene.
Baglio I. +6 more
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FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER
Clinical and Biomedical Research, 2020 Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac ...
Cristina Netto +11 more
doaj
Studies on changes in skin surface bacteria in induced miliaria and associated hypohidrosis
, 1972 DR. Henning, TB. Griffin, HI. Maibach
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Design and implementation of automatic body heat sink for the Hypohidrosis patient. [PDF]
, 2019 Tayaba Naz +4 more
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Predictive value of cobalt chloride solution for hypohidrosis with topiramate
, 2006 Hyuk Lee, Seung Hyun Lee, Sun Jun Kim
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Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]
Cureus, 2023 Zaki H.
europepmc +1 more source
Hypohidrosis as a clue to the early diagnosis of fabry disease and prevention of late complications
, 2019 Chaw‐Ning Lee +3 more
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Induced Miliaria (Prickly Heat), Post-Miliarial Hypohidrosis and Some Potential Sequelæ [Abridged] [PDF]
, 1969 Marion B. Sulzberger
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