TY  - JOUR
AU  - Sanabria-de la Torre, Raquel
AU  - Martinez-Heredia, Luis
AU  - Gonzalez-Salvatierra, Sheila
AU  - Andujar-Vera, Francisco
AU  - Iglesias-Baena, Ivan
AU  - Villa-Suarez, Juan Miguel
AU  - Contreras-Bolivar, Victoria
AU  - Corbacho-Soto, Mario
AU  - Martinez-Navajas, Gonzalo
AU  - Real, Pedro J
AU  - Garcia-Fontana, Cristina
AU  - Muñoz-Torres, Manuel
AU  - Garcia-Fontana, Beatriz
PY  - 2022
DO  - 10.3389/fendo.2022.863940
SN  - 1664-2392
UR  - http://hdl.handle.net/10668/20562
T2  - Frontiers in endocrinology
AB  - Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher...
LA  - en
PB  - Frontiers Research Foundation
KW  - alkaline phosphatase
KW  - bone
KW  - enzymatic activity
KW  - genetic variant
KW  - hypophosphatasia
KW  - mineralization
KW  - pyridoxal 5´ phosphate
KW  - Alkaline Phosphatase
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Hypophosphatasia
KW  - Phenotype
TI  - Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia.
TY  - research article
VL  - 13
ER  -