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Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

author

Henk J Blom

1956 -

Maria Falkenberg

Claes M. Gustafsson

1966 -

published in: American Journal of Human Genetics

date of publication: 2011-09-28

language: English

Cites articles 23

Date

Title

Authors

2011-02-09

Hypermethioninemias of genetic and non-genetic origin: A review
2009-07-25

Subcellular localization of adenosine kinase in mammalian cells: The long isoform of AdK is localized in the nucleus
2009-07-01

AMPK in Health and Disease
2009-08-15

The Sequence Alignment/Map format and SAMtools

Richard M. Durbin, Heng Li, Gonçalo Abecasis, Jue Ruan
2006-09-01

Neural tube defects and folate: case far from closed

Martin den Heijer, Gary M Shaw, Henk J Blom, Richard H. Finnell
2005-01-01

Adenosine deaminase deficiency: metabolic basis of immune deficiency and pulmonary inflammation

Michael R. Blackburn
2004-03-15

S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism

S. Harvey Mudd
2002-09-01

Human non-synonymous SNPs: server and survey

Peer Bork
2002-05-07

Neonatal hepatic steatosis by disruption of the adenosine kinase gene
2001-08-01

Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia
2000-10-01

Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometry
1999-05-01

PSIC: profile extraction from sequence alignments with position-specific counts of independent observations.

Vladimir Tumanyan, Frank Eisenhaber
1998-11-10

Structure of human adenosine kinase at 1.5 A resolution
1998-04-01

The metabolism of homocysteine: pathways and regulation
1993-11-01

The highest levels of purine catabolic enzymes in mice are present in the proximal small intestine.
1981-01-01

Adenosine analogues as substrates and inhibitors of S-adenosylhomocysteine hydrolase
1981-07-01

Adenosine kinase from human liver
1979-11-25

Purification and properties of human placental adenosine kinase
1978-01-01

The Role of Adenosine and 2'-Deoxyadenosine in Mammalian Cells
1974-10-01

Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.
1964-03-01

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.
1959-03-01

The enzymatic synthesis of S-adenosyl-L-homocysteine from adenosine and homocysteine
1951-12-01

Enzymatic phosphorylation of adenosine and 2,6-diaminopurine riboside.

Article - wd:Q35286517

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