(Q42998188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

0 references

1

1 reference

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6 February 2020

author name string

Ramaswamy K Iyer

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Douglas S Kerr

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Ayesha Ahmad

series ordinal

4

1 reference

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6 February 2020

publication date

11 June 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

6 February 2020

published in

1 reference

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6 February 2020

volume

101

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6 February 2020

issue

1

1 reference

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6 February 2020

page(s)

87-89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

6 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

X chromosome inactivation and the diagnosis of X linked disease in females

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

First characterization of a large deletion of the PDHA 1 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Systemic deficiency of the first component of the pyruvate dehydrogenase complex.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Pyruvate dehydrogenase E1 alpha deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Genetic defects in human pyruvate dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

X-linked retinoschisis: a clinical and molecular genetic review

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

Runx2 regulates G protein-coupled signaling pathways to control growth of osteoblast progenitors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.05.008

10.1016/J.YMGME.2010.05.008

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20591708%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference