Associated Papers
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
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
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
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
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 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
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