Co-occurrence of two rare diseases: a child with phenylketonuria and WNT1 osteoporosis
In a patient with a chronic disorder known to affect the skeleton, the presence of disproportionally severe osteoporosis should prompt further diagnostic workup, in order to explain the severe bone phenotype, thus enabling more efficient and targeted therapeutic interventions.
Authors
- Anastasia Skouma
- Artemis Doulgeraki (ORCID: https://orcid.org/0000-0003-0562-6670)
- Symeon Tournis (ORCID: https://orcid.org/0000-0002-8301-324X)
- Outi Mäkitie (ORCID: https://orcid.org/0000-0002-4547-001X)
- Alice Costantini (ORCID: https://orcid.org/0000-0003-1408-9272)
- Evdokia N. Petropoulou
- Fan Wang (ORCID: https://orcid.org/0000-0003-4888-8793)
Institutions
- University of Helsinki (FI)
- Helsinki University Hospital (FI)
- Karolinska Institutet (SE)
- Institute of Child Health (GR)
- KAT General Hospital of Attica (GR)
- Folkhälsans Forskningscentrum (FI)
Publication Details
- Journal
- Hormone Research in Paediatrics
- Published
- 2024-11-27
- DOI
- https://doi.org/10.1159/000541378
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00