Results 71 to 80 of about 2,281 (168)

Acquired anhidrosis in a patient with Sjogren syndrome and silicone breast implants

JAAD Case Reports, 2020
Mary Beth Gadarowski, BS, Tatsiana Pukhalskaya, MD, Ramsay Farah, MD, Bruce R. Smoller, MD   +3 more
doaj   +1 more source

Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation

Journal of Inborn Errors of Metabolism and Screening, 2014
Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
doaj   +1 more source

Acquired hypohidrosis following a drug reaction

Annals of the Academy of Medicine, Singapore, 2021
Gareth, Lim, Hui Yi, Chia, Hong Liang, Tey, Yen Loo, Lim, Yee Kiat, Heng   +4 more
openaire   +2 more sources

A Rare Cause of Secondary Hypertension; Fabry Disease

Turkish Journal of Nephrology, 2019
Fabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body.
Kültigin TÜRKMEN, İsmail BALOĞLU, Nedim Yılmaz SELÇUK, Halil Zeki TONBUL   +3 more
doaj  

Mechanisms of thermal dysregulation in primary hyperhidrosis and hypohidrosis [PDF]

The Journal of Physiology, 2020
Nardin Hanna, Karine Riad
openaire   +2 more sources

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, Maira Burin, Laura Jardim, Marilyn Tsao, Fernanda Pereira, Ursula Matte, Roberto Giugliani, Elvino Barros, Daiana Porsch, Vagner Milani, Liana Rossato, Ane Nunes   +11 more
doaj  

Hypohidrosis [PDF]

, 2020
openaire   +1 more source

Hypohidrosis, CTCAE [PDF]

, 2020
openaire   +1 more source

Multistage orthodontic-implantology-prosthetic treatment of a patient diagnosed with hypohidrosis ectodermal dysplasia syndrome with EDAR mutation: a case report. [PDF]

BMC Oral Health
Huang C, Yan Y, Algahefi A, Al-Tayar B, Zheng B.   +4 more
europepmc   +1 more source

Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series. [PDF]

J Multidiscip Healthc
Liu Y, Liu X, Yang M, Wang Q, Xu W, Zeng J, Han T, Mao H, Qian S.   +8 more
europepmc   +1 more source