Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-022-02335-1
Abstract: Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as… read more here.
Keywords: epidemiology; albinism epidemiology; epidemiology genetics; oculocutaneous albinism ... See more keywords
Global epidemiology and genetics of hepatocellular carcinoma.
Sign Up to like & getrecommendations! Published in 2023 at "Gastroenterology"
DOI: 10.1053/j.gastro.2023.01.033
Abstract: Hepatocellular carcinoma (HCC) is one of the leading cancers worldwide. Classically, HCC develops in genetically susceptible individuals who are exposed to risk factors especially in the presence of liver cirrhosis. Significant temporal and geographical variations… read more here.
Keywords: hepatocellular carcinoma; epidemiology genetics; global epidemiology; epidemiology ... See more keywords
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2021.780184
Abstract: Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs)… read more here.
Keywords: epidemiology; mucopolysaccharidosis type; genetics mucopolysaccharidosis; epidemiology genetics ... See more keywords