Results 111 to 120 of about 3,242 (162)

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]

Int J Mol Sci
Grimaldi A, Auletta A, Ciurli F, Aiello V, Vischini G, Fabbrizio B, Becherucci F, Pasquinelli G, La Manna G, Capelli I, Mignani R.   +10 more
europepmc   +1 more source

A New Class of Pathogenic Non-Coding Variants in GLA. [PDF]

Int J Mol Sci
Yuan Y, Zhang X, Ling C, Zhao Y, Yu M, Wang Z, Yuan Y, Xie Z, Zhang W.   +8 more
europepmc   +1 more source

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

core   +1 more source

Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls [PDF]

core   +1 more source

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

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

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

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

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