Screening for hypophosphatasia: does biochemistry lead the way?
| 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 |
