Results 181 to 190 of about 4,533 (250)

Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report. [PDF]

Front Cardiovasc Med
Li Y, Huang B, Luo S.
europepmc   +1 more source

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare <i>de novo</i> 5q14.3q15 copy number gain. [PDF]

Front Genet
Serban CL, Mihailescu A, Miclea D, Zimbru CG, Stoica F, Chirita-Emandi A.   +5 more
europepmc   +1 more source

Potential role of vitamin D deficiency on Fabry cardiomyopathy [PDF]

core   +1 more source

Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (<i>GLA</i>) gene. [PDF]

Porto Biomed J
Nunes JPL, Soares-Dos-Reis R, Faria MDS, Martins E, Pinho T, Rebelo J, Fonseca RN, Balboa López M, Ferreira S, Oliveira JP.   +9 more
europepmc   +1 more source

Ross syndrome following COVID-19 infection in an 18-year-old Syrian male patient: a case report. [PDF]

J Med Case Rep
Assaf A, Khaddour S, Borghol W, Karaja S, Alfaksh F, Al-Shami K.   +5 more
europepmc   +1 more source

Raising awareness through a case of recurrent fractures in a child with congenital insensitivity to pain and anhidrosis in Saudi Arabia. [PDF]

Ewha Med J
Aldosari A, Almokhtar A, Bukhary H, Sharaf R, Alhomayani K.   +4 more
europepmc   +1 more source

Ichthyosis Prematurity Syndrome. [PDF]

Australas J Dermatol
Li GX, Chen K, Sebaratnam DF, Pham JP.
europepmc   +1 more source

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. [PDF]

Orphanet J Rare Dis
Kim MJ, Lee JS, Chae SW, Cho SI, Moon J, Ko JM, Chae JH, Seong MW.   +7 more
europepmc   +1 more source