review article | Q7318358 |
scholarly article | Q13442814 |
P50 | author | Henk J Blom | Q39861503 |
Bojana Rakic | Q45327552 | ||
Yin-Hsiu Chien | Q57038888 | ||
P2093 | author name string | Dries Dobbelaere | |
Anna Wedell | |||
Sarah C Grünert | |||
Christian Staufner | |||
Ivo Barić | |||
Thomas Opladen | |||
Danijela Petković Ramadža | |||
Persephone Augoustides-Savvopoulou | |||
P2860 | cites work | Neural tube defects and folate: case far from closed | Q24617456 |
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency | Q24622619 | ||
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes | Q26796411 | ||
Automated identification of putative methyltransferases from genomic open reading frames | Q27940326 | ||
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations | Q28117687 | ||
Purification and molecular identification of two protein methylases I from calf brain. Myelin basic protein- and histone-specific enzyme | Q28235761 | ||
The sulfur-containing amino acids: an overview | Q28240336 | ||
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway | Q28323095 | ||
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency | Q28379066 | ||
Tissue distribution of glycine N-methyltransferase, a major folate-binding protein of liver | Q28583073 | ||
Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver | Q28587708 | ||
Isolated persistent hypermethioninemia. | Q30445321 | ||
Characterization of glycine-N-methyltransferase-gene expression in human hepatocellular carcinoma | Q32100816 | ||
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? | Q33554806 | ||
Genetic polymorphisms of the glycine N-methyltransferase and prostate cancer risk in the health professionals follow-up study | Q33572916 | ||
Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamide | Q34065528 | ||
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia | Q34094719 | ||
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism | Q34111150 | ||
Genotypic and phenotypic characterization of a putative tumor susceptibility gene, GNMT, in liver cancer. | Q34174938 | ||
Glycine N-methyltransferase deficiency affects Niemann-Pick type C2 protein stability and regulates hepatic cholesterol homeostasis | Q34241720 | ||
Deficiency of glycine N-methyltransferase aggravates atherosclerosis in apolipoprotein E-null mice | Q34261102 | ||
Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation | Q34280540 | ||
Glycine N -methyltransferase deficiency: a new patient with a novel mutation | Q34291943 | ||
S-adenosylmethionine in liver health, injury, and cancer | Q34306534 | ||
The multi-functional roles of GNMT in toxicology and cancer | Q34311379 | ||
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism | Q34546376 | ||
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. | Q34552928 | ||
MAT2A mutations predispose individuals to thoracic aortic aneurysms | Q34902856 | ||
Glycine N-methyltransferase and regulation of S-adenosylmethionine levels | Q34984060 | ||
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene | Q35238993 | ||
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function | Q35286517 | ||
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines | Q36226353 | ||
Inborn errors of sulfur-containing amino acid metabolism | Q36479642 | ||
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency | Q36522782 | ||
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands | Q36590871 | ||
Loss of the glycine N-methyltransferase gene leads to steatosis and hepatocellular carcinoma in mice | Q36688699 | ||
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. | Q36726616 | ||
S-Adenosylhomocysteine hydrolase deficiency: a second patient, the younger brother of the index patient, and outcomes during therapy | Q36740605 | ||
Sarcosine as a potential prostate cancer biomarker--a review | Q37091881 | ||
Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years | Q37108749 | ||
A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme | Q37472353 | ||
Hypermethioninemias of genetic and non-genetic origin: A review | Q37838882 | ||
Epigenetic Silencing of GNMT Gene in Pancreatic Adenocarcinoma | Q38923013 | ||
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options | Q40237006 | ||
Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis | Q40514578 | ||
Impaired liver regeneration in mice lacking glycine N-methyltransferase. | Q41812802 | ||
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency | Q41927913 | ||
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry | Q42921020 | ||
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. | Q42950424 | ||
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience | Q42967277 | ||
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening. | Q43552201 | ||
Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma | Q62727088 | ||
A rapid screening test for Duchenne muscular dystrophy using dried blood specimens | Q71350884 | ||
Newborn screening for Duchenne muscular dystrophy | Q43662538 | ||
Familial hypermethioninemia partially responsive to dietary restriction | Q44559903 | ||
S‐adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes | Q45569163 | ||
Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma | Q46513349 | ||
Spectrum of hypermethioninemia in neonatal screening. | Q46527830 | ||
Characteristic MR imaging changes in severe hypermethioninemic states. | Q46802634 | ||
MRI and (1)H-MRS in adenosine kinase deficiency | Q48823944 | ||
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. | Q53438013 | ||
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. | Q54485426 | ||
P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
P6216 | copyright status | copyrighted | Q50423863 |
P433 | issue | 1 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | inherited metabolic disorder | Q1758393 |
amino acid | Q8066 | ||
diagnosis | Q16644043 | ||
P5008 | on focus list of Wikimedia project | ScienceSource | Q55439927 |
P304 | page(s) | 5-20 | |
P577 | publication date | 2016-09-26 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders | |
P478 | volume | 40 |
Q46266868 | Complementation of a metK-deficient E. coli strain with heterologous AdoMet synthetase genes |
Q41026907 | Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia |
Q90602540 | Disruption of Brain Redox Homeostasis, Microglia Activation and Neuronal Damage Induced by Intracerebroventricular Administration of S-Adenosylmethionine to Developing Rats |
Q53657806 | Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management. |
Q58726316 | Knock-down of AHCY and depletion of adenosine induces DNA damage and cell cycle arrest |
Q49299774 | Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations |
Q45324785 | S-Adenosyl-L-methionine towards hepatitis C virus expression: Need to consider S-Adenosyl-L-methionine's chemistry, physiology and pharmacokinetics |
Q46269074 | S-Adenosylmethionine Promotes Oxidative Stress and Decreases Na(+), K(+)-ATPase Activity in Cerebral Cortex Supernatants of Adolescent Rats: Implications for the Pathogenesis of S-Adenosylhomocysteine Hydrolase Deficiency |
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