Results 61 to 70 of about 1,964 (150)

Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate.
Shanmugasundaram Karthikeyani, Velliangattur Ramasamy Thirumurthy, Bindhoo A Yuvaraja   +2 more
doaj   +1 more source

REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS)

Journal of Dentistry Indonesia, 2015
Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male.
Susi R. Puspita Dewi
doaj   +1 more source

Basaloid follicular hamartoma syndrome: acquired sporadic variant with hypothyroidism, hypohidrosis and alopecia, a rare case

, 2023
Ushna Ashraf, Najia Ahmed, Nighat Jamal, Rabia Ahmed   +3 more
openalex   +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

The Kidney in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj   +1 more source

Dermatologic Aspects of Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Isolated angiokeratomas (AKs) are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD).
Paula C. Luna MD, Paula Boggio MD, Margarita Larralde MD, PhD   +2 more
doaj   +1 more source

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

, 2001
Joaquín Arcas, Teresa Ferrer, María C. Roche, A Martínez-Bermejo, V. López-Martín   +4 more
openalex   +1 more source

Error in Spelling of Author Name in: Goosefleshlike Lesions and Hypohidrosis [PDF]

, 2008
Alfred Ammoury
openalex   +1 more source

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

, 2021
L. Fertitta, Maria C. Bolling, Rubicelia Vargas, Peter C. van den Akker, E. Bourrat, M. van Geel, Bertrand Knebelmann, Stéphanie Leclerc‐Mercier, Pascal Houillier, S. Hadj‐Rabia   +9 more
openalex   +1 more source

Cholinergic Urticaria: Case Report Of Urticaria Induced By Acquired Seasonal Hypohidrosis [PDF]

, 2014
Yuriy Zgherea, Muhammad Imran, Jaron T. Abbott, Aaron K. Pinion, Selina Gierer, John Martinez   +5 more
openalex   +1 more source