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X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus

Year of publication

2023

Authors

Tanner, Laura M.; Tynninen, Olli; Piippo, Kirsi; Puhakka, Antti M.

Organizations and authors

University of Helsinki

Puhakka Antti M.

Piippo Kirsi

Tanner Laura M.

Tynninen Olli

Helsinki University Hospital Catchment Area

Puhakka Antti M.

Piippo Kirsi

Tanner Laura M.

Tynninen Olli

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

Prenatal diagnosis

Parent publication name

Prenatal Diagnosis

Volume

43

Issue

6

Pages

730-733

ISSN

0197-3851

​Publication forum

65367

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

Gynaecology and paediatrics

Keywords

[object Object]

Publication country

United Kingdom

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

No

DOI

10.1002/pd.6349

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes