Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards (Q48213833)

9 February 2018

title

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards (English)

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

27 October 2022

author name string

Y. Matsubara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

K. Narisawa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

K. Tada

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

H. Ikeda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

Y. Q. Yao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

D. M. Danks

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

A. Green

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678810

27 October 2022

E. R. McCabe

8

1 reference

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27 October 2022

language of work or name

English

0 references

publication date

1 August 1991

1 reference

9 February 2018

31 August 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1678810

full work available at URL

27 October 2022

https://api.elsevier.com/content/article/PII:014067369191110G?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

https://api.elsevier.com/content/article/PII:014067369191110G?httpAccept=text/plain

27 October 2022

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

27 October 2022

1 reference

9 February 2018

volume

338

1 reference

9 February 2018

issue

8766

1 reference

9 February 2018

page(s)

552-553

1 reference

9 February 2018

Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency

cites work

3

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

27 October 2022

4

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation

27 October 2022

5

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

27 October 2022

6

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

Frequency of the G985 MCAD mutation in the general population

27 October 2022

7

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening

27 October 2022

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1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

27 October 2022

9

1 reference

https://api.crossref.org/works/10.1016/0140-6736(91)91110-G

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

27 October 2022

11

1 reference

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27 October 2022

Identifiers

1 reference

9 February 2018

1 reference

9 February 2018