Results 141 to 150 of about 4,533 (250)

Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.

, 2004
Fabry's disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase that results in an accumulation of neutral glycosphingolipids throughout the body, including the cardiovascular system.
Andreucci MV., Cianciaruso B., Federico S., Lo Surdo N., Petretta M., Pisani A., Procaccini D., Sabbatini M., Spinelli L.   +8 more
core  

Cholinergic Urticaria Associated with Hypohidrosis: Report of a Case and Review of the Literature

, 2007
Ken Shiraishi, Shinji Murakami, Koji Hashimoto   +2 more
openalex   +1 more source

Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation. [PDF]

Genes (Basel)
Marcella S, Sirica R, Petrillo N, Ianniello M, Mori A, Castiello R, Capone SF, Evangelista E, Suero T, Ruggiero R, Columbro A, Barone A, Malandrenis I, Fico A, Savarese G.   +14 more
europepmc   +1 more source

Cutaneous manifestations of Fabry disease: A systematic review. [PDF]

J Dermatol
Al-Chaer RN, Folkmann M, Mårtensson NL, Feldt-Rasmussen U, Mogensen M.   +4 more
europepmc   +1 more source

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights. [PDF]

BMC Med Genomics
Nejati P, Khosravi T, Lorestani S, Oladnabi M.   +3 more
europepmc   +1 more source

Studies on changes in skin surface bacteria in induced miliaria and associated hypohidrosis

, 1972
DR. Henning, TB. Griffin, HI. Maibach
openalex   +2 more sources

Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications. [PDF]

Cureus
Patel S, Prasad PN, Sharma T, Rawat A, Agarwal A.   +4 more
europepmc   +1 more source

Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]

Cureus, 2023
Zaki H.
europepmc   +1 more source

Hypohidrosis Plays a Crucial Role in the Vicious Circle of Bathing Suit Ichthyosis: A Case with Summer Exacerbation

, 2014
Ken Washio, Atsushi Fukunaga, M Terai, Kiyotaka Hitomi, K Yamanishi, Chikako Nishigori   +5 more
openalex   +2 more sources

Oligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature. [PDF]

Case Rep Dent
Malami AB, Ogbozor BE, Okolo CC, Aborisade AO, Mahmud UB, Abulfathi AA, Adeyemo YI.   +6 more
europepmc   +1 more source