(Q71791385)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

adenosine monophosphate deaminase deficiency

21 May 2024

main subject

1 reference

S. Tsujino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7580237

21 May 2024

S. Shanske

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7580237

21 May 2024

J. E. Carroll

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7580237

21 May 2024

R. L. Sabina

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7580237

21 May 2024

S. DiMauro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7580237

21 May 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7580237

21 May 2024

publication date

1 July 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

21 October 2019

https://api.elsevier.com/content/article/PII:096089669400062E?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

https://api.elsevier.com/content/article/PII:096089669400062E?httpAccept=text/plain

21 May 2024

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

21 May 2024

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

263-266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

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

21 October 2019

cites work

2

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.

21 May 2024

3

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

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

21 May 2024

4

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Three new mutations in patients with myophosphorylase deficiency (McArdle disease)

21 May 2024

5

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)

21 May 2024

6

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

21 May 2024

7

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

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

21 May 2024

8

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Molecular analysis of the myoadenylate deaminase deficiencies

21 May 2024

10

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Molecular basis of AMP deaminase deficiency in skeletal muscle

21 May 2024

12

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

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

21 May 2024

13

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates

21 May 2024

14

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Myophosphorylase deficiency: an unusually severe form with myoglobinuria

21 May 2024

15

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Metabolic causes of myoglobinuria

21 May 2024

16

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Fatal infantile form of muscle phosphorylase deficiency

21 May 2024

17

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

21 May 2024

18

1 reference

https://api.crossref.org/works/10.1016/0960-8966(94)00062-E

21 May 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7580237%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference