Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

scientific article published on 26 September 2016

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1007/S10545-016-9972-7
P932PMC publication ID5203850
P698PubMed publication ID27671891

P50authorHenk J BlomQ39861503
Bojana RakicQ45327552
Yin-Hsiu ChienQ57038888
P2093author name stringDries Dobbelaere
Anna Wedell
Sarah C Grünert
Christian Staufner
Ivo Barić
Thomas Opladen
Danijela Petković Ramadža
Persephone Augoustides-Savvopoulou
P2860cites workNeural tube defects and folate: case far from closedQ24617456
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiencyQ24622619
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesQ26796411
Automated identification of putative methyltransferases from genomic open reading framesQ27940326
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variationsQ28117687
Purification and molecular identification of two protein methylases I from calf brain. Myelin basic protein- and histone-specific enzymeQ28235761
The sulfur-containing amino acids: an overviewQ28240336
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathwayQ28323095
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiencyQ28379066
Tissue distribution of glycine N-methyltransferase, a major folate-binding protein of liverQ28583073
Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liverQ28587708
Isolated persistent hypermethioninemia.Q30445321
Characterization of glycine-N-methyltransferase-gene expression in human hepatocellular carcinomaQ32100816
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 studyQ33572916
Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamideQ34065528
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemiaQ34094719
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolismQ34111150
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 homeostasisQ34241720
Deficiency of glycine N-methyltransferase aggravates atherosclerosis in apolipoprotein E-null miceQ34261102
Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformationQ34280540
Glycine N -methyltransferase deficiency: a new patient with a novel mutationQ34291943
S-adenosylmethionine in liver health, injury, and cancerQ34306534
The multi-functional roles of GNMT in toxicology and cancerQ34311379
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolismQ34546376
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.Q34552928
MAT2A mutations predispose individuals to thoracic aortic aneurysmsQ34902856
Glycine N-methyltransferase and regulation of S-adenosylmethionine levelsQ34984060
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A geneQ35238993
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver functionQ35286517
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesQ36226353
Inborn errors of sulfur-containing amino acid metabolismQ36479642
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiencyQ36522782
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High LandsQ36590871
Loss of the glycine N-methyltransferase gene leads to steatosis and hepatocellular carcinoma in miceQ36688699
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 therapyQ36740605
Sarcosine as a potential prostate cancer biomarker--a reviewQ37091881
Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 yearsQ37108749
A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzymeQ37472353
Hypermethioninemias of genetic and non-genetic origin: A reviewQ37838882
Epigenetic Silencing of GNMT Gene in Pancreatic AdenocarcinomaQ38923013
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic optionsQ40237006
Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosisQ40514578
Impaired liver regeneration in mice lacking glycine N-methyltransferase.Q41812802
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiencyQ41927913
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass SpectrometryQ42921020
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.Q42950424
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' ExperienceQ42967277
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 carcinomaQ62727088
A rapid screening test for Duchenne muscular dystrophy using dried blood specimensQ71350884
Newborn screening for Duchenne muscular dystrophyQ43662538
Familial hypermethioninemia partially responsive to dietary restrictionQ44559903
S‐adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomesQ45569163
Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasmaQ46513349
Spectrum of hypermethioninemia in neonatal screening.Q46527830
Characteristic MR imaging changes in severe hypermethioninemic states.Q46802634
MRI and (1)H-MRS in adenosine kinase deficiencyQ48823944
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
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectinherited metabolic disorderQ1758393
amino acidQ8066
diagnosisQ16644043
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)5-20
P577publication date2016-09-26
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titleConsensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
P478volume40

Reverse relations

cites work (P2860)
Q46266868Complementation of a metK-deficient E. coli strain with heterologous AdoMet synthetase genes
Q41026907Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
Q90602540Disruption of Brain Redox Homeostasis, Microglia Activation and Neuronal Damage Induced by Intracerebroventricular Administration of S-Adenosylmethionine to Developing Rats
Q53657806Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management.
Q58726316Knock-down of AHCY and depletion of adenosine induces DNA damage and cell cycle arrest
Q49299774Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations
Q45324785S-Adenosyl-L-methionine towards hepatitis C virus expression: Need to consider S-Adenosyl-L-methionine's chemistry, physiology and pharmacokinetics
Q46269074S-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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