Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

Stender, Stefan

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. [electronic resource] - Molecular genetics and metabolism Dec 2015 - 269-74 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2015.10.009 doi


Adenosylhomocysteinase--genetics
Adult
Age of Onset
Amino Acid Metabolism, Inborn Errors--complications
Amino Acid Sequence
Carcinoma, Hepatocellular--complications
Child
Consanguinity
DNA Mutational Analysis
Exome
Female
Gene Expression
Glycine N-Methyltransferase--deficiency
Heterozygote
Homozygote
Humans
Liver Neoplasms--complications
Male
Molecular Sequence Data
Mutation, Missense
Pedigree
S-Adenosylhomocysteine--blood
Sequence Alignment
Transaminases--blood