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Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

Year of publication

2017

Authors

Vieira, Päivi; Cameron, Jessie; Rahikkala, Elisa; Keski-Filppula, Riikka; Zhang, Lin-Hua; Santra, Saikat; Matthews, Allison; Myllynen, Päivi; Nuutinen, Matti; Moilanen, Jukka S.; Rodenburg, Richard J.; Rolfs, Arndt; Uusimaa, Johanna; van Karnebeek, Clara D. M.
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Organizations and authors

University of Oulu

Nuutinen Eero Matti

Rahikkala Elisa Orcid -palvelun logo

Uusimaa Johanna

Moilanen Jukka Orcid -palvelun logo

Vieira Päivi Maria

Keski-Filppula Riikka

Oulu University Hospital Catchment Area

Myllynen Päivi

Rahikkala Elisa

Uusimaa Johanna

Moilanen Jukka

Nuutinen Matti

Vieira Päivi

Keski-Filppula Riikka

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

Molecular genetics and metabolism

Issue

4

Pages

337-341

ISSN

1096-7192

​Publication forum

63528

​Publication forum level

1

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Biomedicine; Gynaecology and paediatrics

Keywords

[object Object],[object Object],[object Object],[object Object]

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1016/j.ymgme.2017.02.003

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

Yes