(Q73778895)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble' (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

6

1 reference

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6 November 2019

author name string

J C Rubio

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M A Martín

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J Bautista

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Y Campos

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

D Segura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 September 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

7

1 reference

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6 November 2019

issue

6-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

387-389

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

Molecular analysis of the myoadenylate deaminase deficiencies

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2897%2900095-3

7 January 2021

10.1016/S0960-8966(97)00095-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9327403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference