Associated Papers
Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.
Lipari Pinto P et al.
Jimd Reports, 2024
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A et al.
Pediatric Nephrology (berlin, Germany), 2017
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 (AHCY) deficiency: two novel mutations with lethal outcome.
Vugrek O et al.
Human Mutation, 2009
S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency: enzymatic capabilities of human AdoHcyase are highly effected by changes to codon 89 and its surrounding residues.
Beluzić R et al.
Biochemical and Biophysical Research Communications, 2008
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
Buist NR et al.
Journal of Inherited Metabolic Disease, 2006
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