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Screening for hypophosphatasia: does biochemistry lead the way?

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Metadaten
Document Type:Article
Language:English
Author:Corinna Melanie Held, Anic Guebelin, Andreas Krebs, Jörn Oliver Sass, Michael Wurm, Ekkehart Lausch, Natascha van der Werf-Grohmann, Karl Otfried Schwab
Parent Title (English):Journal of Pediatric Endocrinology & Metabolism
Volume:35
Issue:2
First Page:169
Last Page:178
ISSN:2191-0251
DOI:https://doi.org/10.1515/jpem-2021-0104
PMID:https://pubmed.ncbi.nlm.nih.gov/34551461
Publisher:De Gruyter
Date of first publication:2021/09/22
Copyright:© 2021 Walter de Gruyter GmbH, Berlin/Boston
Funding:JOS was supported by FH Zeit für Forschung (‘KETOplus’, 005-1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia. CH and KOS received a research grant from Alexion Pharmaceuticals Inc. (University of Freiburg-Schwab-API-IRS-Funding-8.21.17).
Keyword:alkaline phosphatase; heterozygous ALPL mutation; hypophosphatasia; inorganic pyrophosphate; phosphoethanolamine; pyridoxal phosphate; screening
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Projects:KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Entry in this database:2021/09/30