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

Methionine and S-adenosylmethionine levels are critical regulators of PP2A activity modulating lipophagy during steatosis

(2016) Imanol Zubiete-Franco et al.   JOURNAL OF HEPATOLOGY

MRI and 1H-MRS in adenosine kinase deficiency

(2016) C. Staufner et al.   NEURORADIOLOGY

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

(2015) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

(2015) Christian Staufner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

(2015) Martina Huemer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency

(2015) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency

(2015) Stefan Stender et al.   MOLECULAR GENETICS AND METABOLISM

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

(2015) Yin-Hsiu Chien et al.   Orphanet Journal of Rare Diseases

Genetic Polymorphisms of the Glycine N-Methyltransferase and Prostate Cancer Risk in the Health Professionals Follow-Up Study

(2014) Marcelo Chen et al.   PLoS One

Sarcosine as a Potential Prostate Cancer Biomarker—A Review

(2013) Natalia Cernei et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

(2013) María L. Couce et al.   MOLECULAR GENETICS AND METABOLISM

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

(2012) Tomáš Honzík et al.   MOLECULAR GENETICS AND METABOLISM

S-adenosylmethionine in Liver Health, Injury, and Cancer

(2012) Shelly C. Lu et al.   PHYSIOLOGICAL REVIEWS

The multi-functional roles of GNMT in toxicology and cancer

(2012) Chia-Hung Yen et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

(2011) Magnus K. Bjursell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypermethioninemias of genetic and non-genetic origin: A review

(2011) S. Harvey Mudd   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

(2010) C. T. Turgeon et al.   CLINICAL CHEMISTRY

Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamide

(2010) Marta Varela-Rey et al.   HEPATOLOGY

S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes

(2010) Randall Grubbs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia

(2010) Joaquín Fernández-Irigoyen et al.   MOLECULAR GENETICS AND METABOLISM

Impaired liver regeneration in mice lacking glycine N-methyltransferase

(2009) Marta Varela-Rey et al.   HEPATOLOGY

GlycineN-Methyltransferase and Regulation ofS-Adenosylmethionine Levels

(2009) Zigmund Luka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

(2008) Anne Andermann   BULLETIN OF THE WORLD HEALTH ORGANIZATION