Muhammad Nasir Rana's research while affiliated with The Children's Hospital and the Institute of Child Health and other places
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Publication (1)
Abstract Zellweger syndrome (ZS) is the severest variety of peroxisomal biogenesis disorder (PBD). This is a fatal hereditary, autosomal recessive disorder. It is characterized by the absence of peroxisomes in the cells which are essential for many metabolic functions especially beta oxidation of very long chain fatty acids (VLCFAs). We report the...
Citations
... [1,2] The mutation in one or more of the peroxin (PEX) genes, that encode proteins responsible for peroxisomal function, causes Zellweger syndrome (ZS). [1][2][3] The genotype of the patient and age of onset can impact disease severity. The early findings (during the first months of life) are hepatomegaly, splenomegaly, prolonged jaundice, and sometimes, liver failure, but may also manifest with anorexia, vomiting, and diarrhoea, leading to failure to thrive. ...
