Case Reports in DentistryHereditary sensory and autonomic neuropathies (HSANs) are rare inheritable syndromes of unknown etiology. They typically appear in early childhood and are categorized into six different types based on their symptoms.
Sana Lala, Ammar Almustafa
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A Rare Cause of Secondary Hypertension; Fabry Disease
Turkish Journal of Nephrology, 2019 Fabry disease is an x-linked recessive metabolic storage disorder due to the deficiency of lysosomal α-galactosidase A, and the subsequent accumulation of glycosphingolipids, throughout the body.
Kültigin TÜRKMEN +3 more
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FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER
Clinical and Biomedical Research, 2020 Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac ...
Cristina Netto +11 more
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Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series. [PDF]
Front PediatrHe Z, Wu Y, Yang H, Li Y, Xu L.
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Prenatal sonographic clues suggestive of hypohidrotic ectodermal dysplasia in a fetus: a case description. [PDF]
Quant Imaging Med SurgLi C +6 more
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Fabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series. [PDF]
Front Cardiovasc MedHosyanto FF, Li Y, Luo S, Huang B.
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The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture: A case report. [PDF]
Medicine (Baltimore)Liang GH +4 more
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Dermatopathia pigmentosa reticularis and overlap syndrome in siblings-A rare case report. [PDF]
JAAD Case RepRaj M +6 more
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Pruritus in leprosy: an overlooked symptom. [PDF]
Skin Health DisUprety S +5 more
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