Case Reports available in RareLSD

This page is sub-repository which encompasses case reports from different parts of the world with classical findings related to the diosrders caused by lysosomal enzyme dysfunction.

Title
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference
Paediatric Fabry disease
Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Diseas
Fabry Disease
Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report
A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage
Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future
A Rare Case of Mucopolysaccharidosis: Hunter Syndrome
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature
Mucopolysaccharidosis type II(Hunter's syndrome) A clinical case report
A case of Farber lipogranulomatosis
Disseminated Lipogranulomatosis
Mucopolysaccharidosis: type I (Hurler syndrome)
Infantile Pompe disease: A case report and review of the Chinese literature
A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family