Associated Papers
Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.
Lipari Pinto P et al.
Jimd Reports, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
SAM, SAH and C. elegans longevity: insights from a partial AHCY deficiency model.
Thapa P et al.
Npj Aging, 2023
Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology.
Petković Ramadža D et al.
Frontiers in Pediatrics, 2022
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE et al.
Science Translational Medicine, 2014
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Investigation of inter-individual variability of the one-carbon folate pathway: a bioinformatic and genetic review.
Carr DF et al.
The Pharmacogenomics Journal, 2009
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
A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.
Beluzić R et al.
The Biochemical Journal, 2006
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
Buist NR et al.
Journal of Inherited Metabolic Disease, 2006
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
Baric I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
Strauss KA et al.
Molecular Genetics and Metabolism, 0