Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening. (Q43552201)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].

8 March 2020

corrigendum / erratum

1 reference

10.1016/J.YMGME.2015.01.011

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1016/J.YMGME.2015.01.011

author

María L Couce

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

José M Fraga

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

9

S Harvey Mudd

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

M Dolores Bóveda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Concepción García-Jimémez

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Elena Balmaseda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Inmaculada Vives

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Daisy E Castiñeiras

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Ana Fernández-Marmiesse

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Fernando J Corrales

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

publication date

14 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

8 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

110

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

218-221

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia.

8 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Hypermethioninemias of genetic and non-genetic origin: A review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Spectrum of hypermethioninemia in neonatal screening.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Molecular genetics of hepatic methionine adenosyltransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

S-Adenosylmethionine in cell growth, apoptosis and liver cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Disturbed ratio of erythrocyte and plasma S-adenosylmethionine/S-adenosylhomocysteine in peripheral arterial occlusive disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Inherited disorders in the conversion of methionine to homocysteine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.08.003

10.1016/J.YMGME.2013.08.003

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23993429%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference