Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
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H. Blom | Y. Chien | S. Grünert | Bojana Rakić | Danijela Petković Ramadža | I. Barić | D. Dobbelaere | A. Wedell | T. Opladen | C. Staufner | P. Augoustides-Savvopoulou
[1] I. Harting,et al. MRI and 1H-MRS in adenosine kinase deficiency , 2016, Neuroradiology.
[2] H. Blom,et al. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options , 2016, Journal of Inherited Metabolic Disease.
[3] Shelly C. Lu,et al. Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis. , 2016, Journal of hepatology.
[4] Jonathan C. Cohen,et al. Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency. , 2015, Molecular genetics and metabolism.
[5] S. Dragomir,et al. On inequalities of Jensen-Ostrowski type , 2015 .
[6] E. Puffenberger,et al. Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. , 2015, Molecular genetics and metabolism.
[7] H. Blom,et al. Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes , 2015, Orphanet Journal of Rare Diseases.
[8] M. Baumgartner,et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines , 2015, Journal of Inherited Metabolic Disease.
[9] J. Shendure,et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. , 2015, American journal of human genetics.
[10] E. Giovannucci,et al. Genetic Polymorphisms of the Glycine N-Methyltransferase and Prostate Cancer Risk in the Health Professionals Follow-Up Study , 2014, PloS one.
[11] F. Corrales,et al. Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening. , 2013, Molecular genetics and metabolism.
[12] V. Adam,et al. Sarcosine as a Potential Prostate Cancer Biomarker—A Review , 2013, International journal of molecular sciences.
[13] J. Zeman,et al. Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. , 2012, Molecular genetics and metabolism.
[14] Shelly C. Lu,et al. S-adenosylmethionine in liver health, injury, and cancer. , 2012, Physiological reviews.
[15] S. Shyue,et al. Deficiency of Glycine N-Methyltransferase Aggravates Atherosclerosis in Apolipoprotein E-Null Mice , 2012, Molecular medicine.
[16] Shiu-Feng Huang,et al. Glycine N-Methyltransferase Deficiency Affects Niemann-Pick Type C2 Protein Stability and Regulates Hepatic Cholesterol Homeostasis , 2012, Molecular medicine.
[17] J. Lundeberg,et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. , 2011, American journal of human genetics.
[18] K. Kuroiwa,et al. The important role of glycine N-methyltransferase in the carcinogenesis and progression of prostate cancer , 2011, Modern Pathology.
[19] Gary L Hoffman,et al. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project , 2011, Genetics in Medicine.
[20] S. Mudd. Hypermethioninemias of genetic and non‐genetic origin: A review , 2011, American journal of medical genetics. Part C, Seminars in medical genetics.
[21] P. Rinaldo,et al. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. , 2010, Clinical chemistry.
[22] Y. Chien,et al. Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. , 2010, Molecular genetics and metabolism.
[23] M. Radoš,et al. S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes , 2010, Journal of Inherited Metabolic Disease.
[24] Shelly C. Lu,et al. Fatty liver and fibrosis in glycine N‐methyltransferase knockout mice is prevented by nicotinamide , 2010, Hepatology.
[25] Shelly C. Lu,et al. Impaired liver regeneration in mice lacking glycine N‐methyltransferase , 2009, Hepatology.
[26] C. Wagner,et al. Glycine N-Methyltransferase and Regulation of S-Adenosylmethionine Levels* , 2009, The Journal of Biological Chemistry.
[27] A. Andermann,et al. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. , 2008, Bulletin of the World Health Organization.
[28] Shelly C. Lu,et al. Loss of the glycine N‐methyltransferase gene leads to steatosis and hepatocellular carcinoma in mice , 2007, Hepatology.
[29] M. Hsiao,et al. Glycine N‐methyltransferase−/− mice develop chronic hepatitis and glycogen storage disease in the liver , 2007, Hepatology.
[30] Gary M. Shaw,et al. Neural tube defects and folate: case far from closed , 2006, Nature Reviews Neuroscience.
[31] J. Mato,et al. A Glycine N-methyltransferase Knockout Mouse Model for Humans with Deficiency of this Enzyme , 2006, Transgenic Research.
[32] J. Finkelstein,et al. Inborn errors of sulfur-containing amino acid metabolism. , 2006, The Journal of nutrition.
[33] M. Brosnan,et al. The sulfur-containing amino acids: an overview. , 2006, The Journal of nutrition.
[34] I. Pogribny,et al. S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man , 2006, Journal of Inherited Metabolic Disease.
[35] I. Pogribny,et al. S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy , 2005, Journal of Inherited Metabolic Disease.
[36] M. Pomper,et al. Characteristic MR imaging changes in severe hypermethioninemic states. , 2005, AJNR. American journal of neuroradiology.
[37] H. Blom,et al. Stable-isotope dilution liquid chromatography-electrospray injection tandem mass spectrometry method for fast, selective measurement of S-adenosylmethionine and S-adenosylhomocysteine in plasma. , 2005, Clinical chemistry.
[38] Y. Chien,et al. Spectrum of hypermethioninemia in neonatal screening. , 2005, Early human development.
[39] A. Barkovich,et al. Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. , 2004, AJNR. American journal of neuroradiology.
[40] I. Pogribny,et al. S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[41] C. Wagner,et al. Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation. , 2003, Biochemical and biophysical research communications.
[42] C. Wagner,et al. Glycine N-methyltransferase deficiency: A new patient with a novel mutation , 2003, Journal of Inherited Metabolic Disease.
[43] Jonathan E Katz,et al. Automated Identification of Putative Methyltransferases from Genomic Open Reading Frames*S , 2003, Molecular & Cellular Proteomics.
[44] K. Buetow,et al. Genotypic and phenotypic characterization of a putative tumor susceptibility gene, GNMT, in liver cancer. , 2003, Cancer research.
[45] R. Lorini,et al. Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia , 2001, Journal of Inherited Metabolic Disease.
[46] Shelly C. Lu,et al. Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma. , 2000, Journal of hepatology.
[47] J. Chou,et al. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. , 2000, American journal of human genetics.
[48] Yi-Jen Chen,et al. Characterization of glycine‐N‐methyltransferase‐gene expression in human hepatocellular carcinoma , 1998, International journal of cancer.
[49] J. Chou,et al. Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. , 1997, American journal of human genetics.
[50] J. Leonard,et al. Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. , 1996, The Journal of clinical investigation.
[51] H. Levy,et al. Isolated persistent hypermethioninemia. , 1995, American journal of human genetics.
[52] C. Wagner,et al. Tissue distribution of glycine N-methyltransferase, a major folate-binding protein of liver. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[53] R. Surtees,et al. Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway , 1991, The Lancet.
[54] J. Saudubray,et al. Familial hypermethioninemia partially responsive to dietary restriction. , 1990, The Journal of pediatrics.
[55] S. Ghosh,et al. Purification and molecular identification of two protein methylases I from calf brain. Myelin basic protein- and histone-specific enzyme. , 1988, The Journal of biological chemistry.
[56] H. Blom,et al. Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. , 1988, The Journal of clinical investigation.
[57] E. Naylor,et al. A rapid screening test for Duchenne muscular dystrophy using dried blood specimens. , 1984, Clinica chimica acta; international journal of clinical chemistry.
[58] H. Zellweger,et al. Newborn screening for Duchenne muscular dystrophy. , 1975, Pediatrics.
[59] D. Reisner. Sulfur-containing Amino Acids , 1956 .
[60] H. Blom,et al. Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? , 2017, JIMD reports.
[61] S. Dima,et al. Epigenetic Silencing of GNMT Gene in Pancreatic Adenocarcinoma. , 2015, Cancer genomics & proteomics.
[62] B. Weiss,et al. Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience. , 2014, JIMD reports.
[63] I. Barić,et al. Sulphur Amino Acids , 2014 .
[64] Y. Chen,et al. The multi-functional roles of GNMT in toxicology and cancer. , 2013, Toxicology and applied pharmacology.
[65] E. Martins,et al. Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands. , 2012, JIMD reports.
[66] I. Barić,et al. The fourth S-adenosylhomocysteine hydrolase deficient patient : Further evidence of congenital miopathy , 2007 .
[67] J. Phillips,et al. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism , 2001, Human Genetics.
[68] S. Mudd. Disorders of transsulfuration , 1989 .
[69] Ja Wilson,et al. Principles and practice of screening for disease , 1968 .
[70] epigenetic silencing in , 2022 .