Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S16.xls › Sheet1
Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.
Judkins AJ et al.
Neonatology, 2018
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.
Motzek A et al.
Plos One, 2016
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.
Stender S et al.
Molecular Genetics and Metabolism, 2015
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.
Grubbs R et al.
Journal of Inherited Metabolic Disease, 2010
S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.
Vugrek O et al.
Human Mutation, 2009
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