Epidermal barrier disorders and corneodesmosome defects [PDF]
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Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy. [PDF]
Int J Mol SciGrimaldi A +10 more
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Amniotic constriction band: A multidisciplinary assessment of etiology and clinical presentation [PDF]
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A New Class of Pathogenic Non-Coding Variants in GLA. [PDF]
Int J Mol SciYuan Y +8 more
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Horner's Syndrome with a Sensation of Warmth Due to Hypohidrosis
, 2013 Manabu Higaki +3 more
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Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. [PDF]
J Adv ResGuo W, Ji P, Li Y, Zhang Y, Bi J, Xie Y.
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Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant. [PDF]
Neurol SciAhmad R, Zamani M, Naeem M, Houlden H.
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Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. [PDF]
Int J Clin Pediatr DentD'Souza OK +3 more
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Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease
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