Results 121 to 130 of about 3,399 (216)

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  

A 17-year-old boy with hemifacial flushing and anhidrosis. [PDF]

JAAD Case Rep
Farinha PS, Ferreirinha A, Vilela B, Duarte B.   +3 more
europepmc   +1 more source

Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia [PDF]

, 2007
Elisa Benetti, Lina Artifoni, Luisa Murer   +2 more
core   +1 more source

A classical variant of ectodermal dysplasia: a case report. [PDF]

Pan Afr Med J
Jawade S, Wankhede P, Sharma R, Munjewar P, More V.   +4 more
europepmc   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

J Med Case Rep
Ahmadkhani A, Taherifard E, Zoghi S, Jafari Khamirani H, Ahmadkhani M, Dastgheib SA.   +5 more
europepmc   +1 more source

Porous polyethylene in reconstructive head and neck surgery [PDF]

, 1985
Berghaus, Alexander
core   +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

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

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]

Dermatopathology (Basel)
Süßmuth K, Oji V, Bodes J, Jochum I, Muhs F, Komlosi K, Hausser I, Schmuth M, Traupe H, Fischer J, Metze D.   +10 more
europepmc   +1 more source

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