Results 111 to 120 of about 3,399 (216)

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  

Hypohidrosis, CTCAE [PDF]

, 2020
openaire   +1 more source

085 Hypohidrosis, ichthyosis and hypokalemia: HELIX syndrome [PDF]

Journal of Investigative Dermatology, 2021
L. Fertitta, M.C. Bolling, R. Vargas, P.C. van den Akker, E. Bourrat, M. van Geel, B. Knebelmann, S. Leclerc-Mercier, P. Houillier, S. Hadj-Rabia   +9 more
openaire   +1 more source

Christ Siemens Touraine syndrome: a case report [PDF]

, 2009
Luiz Gutenberg TM Coelho, Arnaldo F Caldas, Evelyne P Soriano, Veronica MS Rodrigues, Roseane S Costa, N Freire-Maia, J Zonana, U Mehta, C Drögemüller, J Kere, PH Itin, H van Bokhoven, TA Phan, AJ Hickey   +13 more
core   +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

Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database. [PDF]

Intractable Rare Dis Res
Wang J, Liu J, Chen J, Zhang A, Mao J, Shen T, Jiang X, Wang M, Tao Y, Zhao B, Wang X, Li Z, Chen A, Chen C, Zhang B, Zhang D, Zhao L, Zhao Y, Bao Y, Bai L, Liu C, Wang F, Hu F, Chen M, Lv X, Sun S, Shen Q, Xu H.   +27 more
europepmc   +1 more source

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

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

ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity. [PDF]

JAAD Case Rep
Elhofy N, Almukhaimar SK, Alyaseen SY, Aldandan AW, Al-Mulhem MA.   +4 more
europepmc   +1 more source

Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults [PDF]

, 2017
Adami, Alessandro, Banfi, Elena, Bovi, Paolo, Burlina, A., Caria, F., Costa, P., De Giuli, V., Del Sette, Massimo, Di Lisi, Filomena, Gamba, Massimo, Giorli, Elisa, Lodigiani, Corrado, Malferrari, Giovanni, Marcheselli, Simona, Melis, Maurizio, Morotti, A., Musolino, Rossella, Paciaroni, Maurizio, Padovani, A., Pezzini, A, Piras, Valeria, Poli, L., Pugliese, Nicola, Rasura, Maurizia, Silvestrelli, Giorgio, Simone, Anna Maria, Spalloni, Alessandra, Stilo, Cesare, Tancredi, Lucia, Tomelleri, Giampaolo, Toriello, Antonella, Zedde, Marialuisa, Zini, Andrea   +32 more
core   +1 more source

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights. [PDF]

BMC Oral Health
Thaweesapphithak S, Krasaesin A, Prommanee S, Intarak N, Pongsapipatana N, Sriwattanapong K, Sukarawan W, Fakhruddin KS, Porntaveetus T.   +8 more
europepmc   +1 more source