Associated Papers
Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL.
Yue H et al.
Oral Diseases, 2024
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 2022
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
García-Fontana C et al.
Scientific Reports, 2019
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J et al.
American Journal of Medical Genetics. Part A, 2017
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report.
Demirbilek H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2012
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Taillandier A et al.
Human Mutation, 2001
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