Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
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DOI: 10.1016/j.gene.2016.11.005
Abstract: MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human… read more here.
Keywords: characterization arylsulfatase; functional characterization; arylsulfatase mutations; arylsulfatase ... See more keywords
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
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DOI: 10.1055/s-0038-1624577
Abstract: Refractory rickets is a genetic disorder that cannot be treated by vitamin D supplementation and adequate dietary calcium and phosphorus. Hereditary hypophosphatemic rickets is one of the major forms of refractory rickets in Indian children… read more here.
Keywords: indian patients; refractory rickets; genetics; genetics refractory ... See more keywords