Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function
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The Biochemistry and Epigenetics of Epilepsy: Focus on Adenosine and GlycineAdenosine kinase: exploitation for therapeutic gain.Adenosine Kinase Deficiency in the Brain Results in Maladaptive Synaptic Plasticity.Regulation of S-adenosylhomocysteine hydrolase by lysine acetylationGlycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?Transposon mutagenesis identifies genes driving hepatocellular carcinoma in a chronic hepatitis B mouse modelA novel role of the tumor suppressor GNMT in cellular defense against DNA damage.Library preparation and multiplex capture for massive parallel sequencing applications made efficient and easyHierarchical molecular tagging to resolve long continuous sequences by massively parallel sequencingGenetic variation in the adenosine regulatory cycle is associated with posttraumatic epilepsy developmentNewborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Sex bias occurrence of hepatocellular carcinoma in Poly7 molecular subclass is associated with EGFR.An Adenosine-Mediated Glial-Neuronal Circuit for Homeostatic Sleep.Web-based newborn screening system for metabolic diseases: machine learning versus clinicians.Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.Dynamic Regulation of the Adenosine Kinase Gene during Early Postnatal Brain Development and Maturation.Novel regulatory roles of omega-3 fatty acids in metabolic pathways: a proteomics approach.Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.S-adenosyl-L-homocysteine hydrolase and methylation disorders: yeast as a model system.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Next-generation sequencing applied to rare diseases genomics.Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression.Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Regulation of endothelial intracellular adenosine via adenosine kinase epigenetically modulates vascular inflammation.Modeling the antiviral activity of ribavirin against hepatitis C virus in cell culture.Homeostatic control of brain function - new approaches to understand epileptogenesis.MRI and (1)H-MRS in adenosine kinase deficiency.Inborn errors of purine metabolism: clinical update and therapies.Target Fishing by Cross-Docking to Explain Polypharmacological EffectsMulti-omic network-based interrogation of rat liver metabolism following gastric bypass surgery featuring SWATH proteomicsAdenosine Kinase couples sensing of cellular potassium depletion to purine metabolism
P2860
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P2860
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Adenosine kinase deficiency di ...... y, and abnormal liver function
@ast
Adenosine kinase deficiency di ...... y, and abnormal liver function
@en
type
label
Adenosine kinase deficiency di ...... y, and abnormal liver function
@ast
Adenosine kinase deficiency di ...... y, and abnormal liver function
@en
prefLabel
Adenosine kinase deficiency di ...... y, and abnormal liver function
@ast
Adenosine kinase deficiency di ...... y, and abnormal liver function
@en
P2093
P2860
P1476
Adenosine kinase deficiency di ...... y, and abnormal liver function
@en
P2093
Anna Wedell
Claes M Gustafsson
Cornelis Jakobs
Desiree Smith
Eduard Struys
Göran Brandberg
Joakim Lundeberg
Jordi Asin Cayuela
Magnus K Bjursell
Maria Halldin
P2860
P304
P356
10.1016/J.AJHG.2011.09.004
P407
P577
2011-09-28T00:00:00Z