Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA
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DOI: 10.1097/md.0000000000012393
Abstract: Rationale: Mucopolysaccharidosis IVA (Morquio A) is a catabolic mucopolysaccharide disorder caused by galactose-6-sulfate sulfatase deficiency. It is an autosomal recessive inherited disease. Previous reports on clinical characteristics of Morquio A mainly focused on growth retardation,… read more here.
Keywords: hormone; metabolism; mucopolysaccharidosis; level ... See more keywords
Association Between the Polymorphism of Steroid Hormone Metabolism Genes and High-Altitude Pulmonary Edema in the Chinese Han Population
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DOI: 10.2147/ijgm.s345495
Abstract: Purpose Steroid hormone metabolism plays an essential role in high-altitude pulmonary edema (HAPE) progression. This study aimed to investigate the association between polymorphism in seven steroid hormone metabolism genes (STAR, HSD3B1, HSD3B2, CYP17A1, CYP21A2, CYP11B1,… read more here.
Keywords: hape; high altitude; steroid hormone; hormone metabolism ... See more keywords