Associated Papers
Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study.
Tornero C et al.
Jbmr Plus, 2024
Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.
Tornero C et al.
Orphanet Journal of Rare Diseases, 2022
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
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B et al.
Bone, 2017
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