(Q35286517)

7 August 2017

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

1 reference

7 August 2017

Henk J Blom

2

0 references

Maria Falkenberg

9

object named as

Maria Falkenberg

1 reference

7 August 2017

Claes M Gustafsson

14

0 references

author name string

Magnus K Bjursell

1

1 reference

7 August 2017

Jordi Asin Cayuela

3

1 reference

7 August 2017

Martin L Engvall

4

1 reference

7 August 2017

Nicole Lesko

5

1 reference

7 August 2017

Shanti Balasubramaniam

6

1 reference

7 August 2017

Göran Brandberg

7

1 reference

7 August 2017

Maria Halldin

8

1 reference

7 August 2017

Cornelis Jakobs

10

1 reference

7 August 2017

Desiree Smith

11

1 reference

7 August 2017

Eduard Struys

12

1 reference

7 August 2017

Ulrika von Döbeln

13

1 reference

7 August 2017

Joakim Lundeberg

15

1 reference

7 August 2017

Anna Wedell

16

1 reference

7 August 2017

language of work or name

English

0 references

publication date

28 September 2011

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

89

1 reference

7 August 2017

4

1 reference

7 August 2017

507-515

1 reference

Hypermethioninemias of genetic and non-genetic origin: A review

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

AMPK in Health and Disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

The Sequence Alignment/Map format and SAMtools

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Neural tube defects and folate: case far from closed

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Human non-synonymous SNPs: server and survey

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Neonatal hepatic steatosis by disruption of the adenosine kinase gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Structure of human adenosine kinase at 1.5 A resolution

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

The metabolism of homocysteine: pathways and regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Adenosine analogues as substrates and inhibitors of S-adenosylhomocysteine hydrolase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Adenosine kinase from human liver

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

Purification and properties of human placental adenosine kinase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188832

10.1016/J.AJHG.2011.09.004

26 September 2018

Identifiers

DOI

1 reference

7 August 2017

1 reference

7 August 2017

1 reference