Results 171 to 180 of about 3,494 (229)

Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. [PDF]

J Adv Res
Guo W, Ji P, Li Y, Zhang Y, Bi J, Xie Y.
europepmc   +1 more source

Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant. [PDF]

Neurol Sci
Ahmad R, Zamani M, Naeem M, Houlden H.
europepmc   +1 more source

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. [PDF]

Int J Clin Pediatr Dent
D'Souza OK, Dukle SG, Naik R, de Ataide IN.   +3 more
europepmc   +1 more source

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

Hypohidrosis and dermatological manifestations as guides for the severity of carpal tunnel syndrome

, 2018
Güldehan Atış
openalex   +2 more sources

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

Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease

, 2016
BIFULCO, GIUSEPPE, DI SPIEZIO SARDO, ATTILIO, PISANI, ANTONIO, RICCIO, ELEONORA   +3 more
core  

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