Results 21 to 30 of about 3,242 (162)

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]

, 2015
Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina, Bichet, Daniel G, Bénichou, Bernard, Clarke, Lorne A, Dostalova, Gabriela, Fainboim, Alejandro, Fellgiebel, Andreas, Forcelini, Cassiano, Hopkin, Robert J, Mauer, Michael, Najafian, Behzad, Ramaswami, Uma, Scott, C Ronald, Shankar, Suma P, Thurberg, Beth L, Tylki-Szymańska, Anna, Tøndel, Camilla, Wijburg, Frits A   +17 more
core   +3 more sources

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

First case of congenital idiopathic hypohidrosis in China [PDF]

Anais Brasileiros de Dermatologia, 2015
A 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms.
Shi, Ge, Zhu, Cheng-Yao, Zhou, Ying, Yang, Yan-Ping, Fan, Yi-Ming   +4 more
openaire   +5 more sources

I Jornada de expertos en ictiosis [PDF]

, 2013
On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín, A. Torrelo-Fernández, A. Vega, F. Casco, F. Larcher, H. Traupe, I. Arroyo, J.L. Pedreira-Massa, P. de Unamuno-Pérez, R. de Lucas-Laguna, R. González-Sarmiento   +10 more
core   +3 more sources

Printed Wearable Sweat Rate Sensor for Continuous In Situ Perspiration Measurement

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
A wireless wearable sweat rate sensor system is presented, featuring digital 3D direct‐write printing on a flexible substrate with microfluidic layers for continuous, real‐time monitoring. Printed encapsulated metal electrodes are used for capacitance measurements, achieving high sensitivity (0.01 μL min−1) while maintaining a compact and lightweight ...
Mohammad Shafiqul Islam, Sangwon Cha, Md Farhad Hassan, Wenxin Cai, Tahsin Sejat Saniat, Cedar Rose Leach, Yasser Khan   +6 more
wiley   +1 more source

Frequency of Fabry disease in male and female haemodialysis patients in Spain [PDF]

, 2011
Background: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme a-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females.
Alegria, P.R. (Pilar), Andrade, C.F. (Carlos), Cerezo, Sebastián, Delgado, Rodrigo, Forascepi, Ramón, Herrera, Julio, Macias, Juan, Paulo, Gaspar, Pino, M.D. (María), Prados, M.D. (María), Rodrigues, Daniel, Sá-Miranda, M.C. (Maria), Torres, Gerardo, Vidau, Pedro   +13 more
core  

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K, Grittner, U, Kolodny, E, Lackner, KJ, Lukas, J, Markoff, A, Mascher, H, Meyer, W, Rolfs, A, Saviouk, V, Wree, P   +10 more
core   +3 more sources

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Hypohidrosis or hyperhidrosis? Ross syndrome

Dermatologica Sinica, 2016
AbstractRoss syndrome is a rare clinical disorder of sweating associated with areflexia and tonic pupil. The most disturbing symptoms are segmental compensatory hyperhidrosis and heat intolerance. There are few reports of Ross syndrome in the dermatological literature.
Didem Mullaaziz, Aslı Feride Kaptanoglu, Amber Eker   +2 more
openaire   +2 more sources

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source