Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

Author:

Vieira Päivi12ORCID,Nagy Irina I.3,Rahikkala Elisa245,Väisänen Marja‐Leena3,Latva Katariina6,Kaunisto Kari12,Valmari Pekka7,Keski‐Filppula Riikka24,Haanpää Maria K.58,Sidoroff Virpi9,Miettinen Päivi J.10ORCID,Arkkola Tuula1,Ojaniemi Marja12,Nuutinen Matti12,Uusimaa Johanna12ORCID,Myllynen Päivi3

Affiliation:

1. Clinic for Children and Adolescents, Oulu University Hospital Oulu Finland

2. PEDEGO Research Unit and Medical Research Center, Oulu University Hospital and University of Oulu Oulu Finland

3. Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital Oulu Finland

4. Department of Clinical Genetics Oulu University Hospital Oulu Finland

5. Institute of Biomedicine, University of Turku Turku Finland

6. Department of Pediatrics Päijät‐Häme Central Hospital Lahti Finland

7. Department of Pediatrics Lapland Central Hospital Rovaniemi Finland

8. Department of Clinical Genetics Turku University Hospital and University of Turku Turku Finland

9. Department of Pediatrics North Karelia Central Hospital Joensuu Finland

10. New Children's Hospital, Helsinki University Hospital, Pediatric Research Center Helsinki Finland

Funder

Academy of Finland

Suomen Lääketieteen Säätiö

Lastentautien Tutkimussäätiö

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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