Results 121 to 130 of about 1,964 (150)

Fabry Disease in a Female: A Unique Case Highlighting the Variability in Clinical Presentation. [PDF]

Cureus
Gupta A, Luthra SR, Luthra S.
europepmc   +1 more source

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study. [PDF]

Genes (Basel)
Sirica R, Ottaiano A, Brasi D, Marcella S, Acquaviva F, Ianniello M, Petrillo N, De Angelis V, Ruggiero R, D'Angelo R, Evangelista E, Fico A, Savarese G.   +12 more
europepmc   +1 more source

Enzyme Replacement and Immunosuppression in Heart Transplant Recipients with Fabry Cardiomyopathy: A 7-Year Case Study. [PDF]

Am J Case Rep
Muras-Szwedziak K, Wójcik M, Wojtyczka O, Kaczmarek K.   +3 more
europepmc   +1 more source

"Real world" medical care of patients with Fabry disease by primary care physicians, internists or general practitioners. [PDF]

Cardiovasc Diagn Ther
Mayer O, Kaemmerer H, Ewert P, Freiberger A, Lagler FB, Regenbogen C, Trenkwalder T, von Scheidt F, Kurschat C, Freilinger S.   +9 more
europepmc   +1 more source

Dental Implants as a Treatment Option for Prosthetic Rehabilitation of Children with Ectodermal Dysplasia: A Systematic Review. [PDF]

Int J Clin Pediatr Dent
Barve KD, Padawe DS, Takate VS.
europepmc   +1 more source

Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report. [PDF]

Front Genet
Zhuang M, Xu Y, Zhong S, Tian Z, Liu Q, Yang D.   +5 more
europepmc   +1 more source

Fabry Disease: A Rare Mutation With Common Clinical Presentation. [PDF]

Cureus
Certal M, Cerqueira E, Ribeiro C, Santos MB, Tavares S.   +4 more
europepmc   +1 more source

Screening for Fabry disease in patients on Hemodialysis. [PDF]

Int J Appl Basic Med Res
Batta G, Vishnuprasad R, Batta A, Santhanalakshmi D, Dwivedi A.   +4 more
europepmc   +1 more source

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene. [PDF]

Front Pediatr
Melnik E, Sharova M, Kenis V, Morgul A, Zabnenkova V, Markova T.   +5 more
europepmc   +1 more source