INTRODUCTION & BASICS Gaucher disease (GD) is the most common disorder among Lysosomal storage disorders (LSD) worldwide and in India. Lysosomal storage disorders are a group of more than 40...
Interstitial cystitis, also known as bladder pain syndrome (IC/BPS), is a rare chronic debilitating condition that causes painful urinary symptoms .It’s a urogenital disease characterized by urinary frequency, urgency, and...
Farber disease is an ultra-rare lysosomal storage disease caused by a mutation in both alleles of the ASAH1 gene, resulting in the deficiency of the lysosomal enzyme acid ceramidase. This leads to...
Indian Osteogenesis Imperfecta Foundation Inaugurated on 9th Sept 2018. IOIF Brochure...
Jansen’s metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant human disorder characterized short-limbed dwarfism due to delayed chondrocyte differentiation and an associated, usually severe hypercalcemia and hypophosphatemia, despite normal or...
Hirschsprung’s disease, also known as Congenital aganglionic megacolon, is a congenital disorder affecting the nerve supply of the intestine, especially the large intestine which makes the child unable to have...
