Results 31 to 40 of about 3,242 (162)

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando, González García, Manuel, López-Arranz Monje, E., Martínez Fernández, Miguel, Pipa Vallejo, Adolfo   +4 more
core  

A 15-year perspective of the fabry outcome survey [PDF]

, 2016
The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M, Giugliani, R, Hughes, D, Kampmann, C, Nicholls, K, Niu, DM, Pintos-Morell, G, Ramaswami, U, Schenk, JM, West, M   +9 more
core   +2 more sources

Faecal microbiome, gastrointestinal integrity, inflammation and thermoregulation in recent exertional heat illness patients and matched controls

Experimental Physiology, Volume 111, Issue 2, Page 403-425, 1 February 2026.
Abstract The gastrointestinal (GI) microbiota and GI barrier integrity are hypothesised to contribute to exertional heat illness (EHI) aetiology. We compared the faecal microbiome, GI barrier integrity, inflammation and thermoregulation of 29 recent (∼4 months) EHI patients (a group with elevated EHI risk) and 29 control individuals without prior EHI ...
Alex A. M. Gould, Neil P. Walsh, Michael J. Tipton, Michael J. Zurawlew, Omar Tayari, Carol House, Simon K. Delves, Samuel C. Robson, Janis J. Shute, Joy E. M. Watts, Andrew J. Roberts, Alex J. Rawcliffe, Megan R. Robinson, Jo Corbett   +13 more
wiley   +1 more source

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source

Female Fabry disease patients and X-chromosome inactivation [PDF]

, 2018
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Juchniewicz, Patrycja, Kloska, Anna, Moskot, Marta, Piotrowska, Ewa, Tylki-Szymańska, Anna, Węgrzyn, Grzegorz   +7 more
core   +1 more source

Hypohidrosis Related to the Administration of Topiramate to Children [PDF]

Epilepsia, 2001
Summary:  Purpose: Topiramate (TPM) is an antiepileptic agent, first licensed in the United Kingdom in 1994, that is used in the treatment of patients with refractory seizure disorders. TPM is a monosaccharide d‐fructose derivate, with sulfamate function, and so far, few adverse side effects have been reported.Methods: We describe three patients with ...
J, Arcas, T, Ferrer, M C, Roche, A, Martínez-Bermejo, V, López-Martín   +4 more
openaire   +2 more sources

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF

Pediatric Dermatology, Volume 42, Issue 6, Page 1265-1269, November/December 2025.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm, Lise Graversen, Anne Katrine Wrist Simonsen, Jenny Blechingberg, Laura Krogh Herlin, Kirsten Rønholt   +5 more
wiley   +1 more source

Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]

, 2007
PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal, Roza, Rosemere Teixeira   +1 more
core   +3 more sources

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng, Zhiwei Wu, Shuzhen Chen, Chunfa Weng, Junwei Huang, Jinzao Chen   +5 more
wiley   +1 more source

Angiokeratoma of tongue:a series of 14 cases [PDF]

, 2006
Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
Ahmed, Rashid, Ahmed, Zubair, Ahsan, Aamir, Hassan, Sheema, Husain, Akhter, Kayani, Naila, Pervez, Shahid, Yaqoob, Nausheen   +7 more
core   +1 more source