(Q44410019)

2 December 2017

title

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation (English)

1 reference

2 December 2017

1 reference

1 reference

https://api.crossref.org/works/10.1023/A:1022829214415

26 December 2023

1 reference

7

S H Mudd

1 reference

2 December 2017

2

E. Santamaria

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

26 December 2023

5

J. M. Mato

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

26 December 2023

6

F. J. Corrales

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

26 December 2023

author name string

S. Z. Kim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

26 December 2023

T. E. Jeong

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

26 December 2023

H. L. Levy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

26 December 2023

language of work or name

1 reference

1 December 2002

1 reference

full work available at URL

2 December 2017

https://dadun.unav.edu/bitstream/10171/21488/1/JIMD_200225661.pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12705496

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1022829214415

26 December 2023

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1022829214415

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1022829214415

26 December 2023

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1022829214415

Journal of Inherited Metabolic Disease

26 December 2023

published in

1 reference

2 December 2017

volume

25

1 reference

2 December 2017

issue

8

1 reference

2 December 2017

page(s)

661-671

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1022829214415

2 December 2017

exact match

0 references

cites work

Transamination of methionine in humans

1 reference

12 December 2020

Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency

1 reference

12 December 2020

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency

1 reference

12 December 2020

Effect of methionine loading on 5-methyltetrahydrofolate, S-adenosylmethionine and S-adenosylhomocysteine in plasma of healthy humans.

1 reference

12 December 2020

Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity

1 reference

12 December 2020

Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism

1 reference

12 December 2020

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations

1 reference

12 December 2020

Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectrometry

1 reference

12 December 2020

Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis

1 reference

12 December 2020

Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene

1 reference

12 December 2020

Methionine adenosyltransferase S-nitrosylation is regulated by the basic and acidic amino acids surrounding the target thiol.

1 reference

12 December 2020

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

1 reference

12 December 2020

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency

1 reference

12 December 2020

Isolated persistent hypermethioninemia.

1 reference

12 December 2020

Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.

1 reference

12 December 2020

Site-directed mutagenesis of rat liver S-adenosylmethionine synthetase. Identification of a cysteine residue critical for the oligomeric state

1 reference

12 December 2020

Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles

1 reference

12 December 2020

Hysteretic behavior of methionine adenosyltransferase III. Methionine switches between two conformations of the enzyme with different specific activity

1 reference

12 December 2020

Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products.

1 reference

12 December 2020

Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency

1 reference

12 December 2020

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

1 reference

12 December 2020

Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.

1 reference

12 December 2020

brain demyelination due to methionine adenosyltransferase deficiency

13

1 reference

Crossref

https://api.crossref.org/works/10.1023/A:1022829214415

26 December 2023

Identifiers

1 reference

Dimensions Publication ID

2 December 2017

1002772066

0 references

1 reference