(Q48967116)

English

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

scientific article published on 2 August 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

author name string

Shunsuke Tamaru

1

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Akihiko Kikuchi

2

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Kimiyo Takagi

3

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Jiu Okuno

4

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Kaori Ishikawa

5

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Shinya Imada

6

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Tsuguhiro Horikoshi

7

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Yu-ichi Goto

8

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Shinichi Hirabayashi

9

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

publication date

2 August 2011

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Journal of Clinical Ultrasound

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

40

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

4

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

234-238

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

Pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FJCU.20864

21 January 2018

Identifiers

10.1002/JCU.20864

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/21812000

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