Alexion Pharmaceuticals, Inc./International[Grants and Funding] - Search Results

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Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.

Szabo SM, Tomazos IC, Petryk A, Powell LC, Donato BMK, Zarate YA, Tiulpakov A, Martos-Moreno GÁ. Szabo SM, et al. Orphanet J Rare Dis. 2019 Apr 25;14(1):85. doi: 10.1186/s13023-019-1062-0. Orphanet J Rare Dis. 2019. PMID: 31023354 Free PMC article.

Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.

Del Angel G, Hutchinson AT, Jain NK, Forbes CD, Reynders J. Del Angel G, et al. Hum Mutat. 2019 Nov;40(11):2007-2020. doi: 10.1002/humu.23837. Epub 2019 Jul 12. Hum Mutat. 2019. PMID: 31180157 Free PMC article.

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