Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry

Authors

Kathryn McCrystal Dahir (ORCID: https://orcid.org/0000-0002-9980-9138)
Lothar Seefried (ORCID: https://orcid.org/0000-0003-1154-3388)
William R. Mowrey (ORCID: https://orcid.org/0000-0001-9531-9409)
Priya Sunil Kishnani (ORCID: https://orcid.org/0000-0001-8251-909X)
Cheryl R. Greenberg (ORCID: https://orcid.org/0000-0002-4741-8442)
Anna Petryk (ORCID: https://orcid.org/0000-0001-8017-0170)
Agnès Linglart (ORCID: https://orcid.org/0000-0003-3455-002X)
Gabriel Ángel Martos‐Moreno (ORCID: https://orcid.org/0000-0001-5524-2646)
Keiichi Ozono (ORCID: https://orcid.org/0000-0002-6517-8825)
Wolfgang Högler (ORCID: https://orcid.org/0000-0003-4328-6304)
Shona Fang (ORCID: https://orcid.org/0009-0008-7019-5647)

Institutions

Johannes Kepler University of Linz (AT)
Inserm (FR)
University of Würzburg (DE)
Université Paris-Saclay (FR)
Instituto de Salud Carlos III (ES)
Assistance Publique – Hôpitaux de Paris (FR)
Hospital Infantil Universitario Niño Jesús (ES)
Alexion Pharmaceuticals (United States) (US)
AstraZeneca (United States) (US)
Duke University Hospital (US)
University of Manitoba (CA)
Universidad Autónoma de Madrid (ES)
Vanderbilt University Medical Center (US)

Publication Details

Journal: Journal of Medical Genetics
Published: 2025-02-18
DOI: https://doi.org/10.1136/jmg-2024-110383
Citations: 5
Primary Topic: Alkaline Phosphatase Research Studies
Type: article
Field-Weighted Citation Impact: 6.47

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article

Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry

Kathryn McCrystal Dahir, Lothar Seefried, William R. Mowrey, Priya Sunil Kishnani et al.

Feb 18, 2025

5 citations

Journal of Medical Genetics

Alkaline Phosphatase Research Studies

6.47

article

Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry

Kathryn McCrystal Dahir, Lothar Seefried, William R. Mowrey, Priya Sunil Kishnani, Cheryl R. Greenberg, Anna Petryk, Agnès Linglart, Gabriel Ángel Martos‐Moreno, Keiichi Ozono, Wolfgang Högler, Shona Fang

February 18, 2025article en

5 citations

Abstract

No abstract available for this paper.

Journal of Medical GeneticsVol. 62(4)

Johannes Kepler University of Linz (AT), Inserm (FR), University of Würzburg (DE), Université Paris-Saclay (FR), Instituto de Salud Carlos III (ES), Assistance Publique – Hôpitaux de Paris (FR), Hospital Infantil Universitario Niño Jesús (ES), Alexion Pharmaceuticals (United States) (US), AstraZeneca (United States) (US), Duke University Hospital (US), University of Manitoba (CA), Universidad Autónoma de Madrid (ES), Vanderbilt University Medical Center (US)

Openalex Percentile: Top 4%

Alkaline Phosphatase Research Studies

6.47

DOI Open Access PDF OpenAlex

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Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry — Kathryn McCrystal Dahir, Lothar Seefried, et al. · Journal of Medical Genetics (2025) | TGRS Research Map | TGRS