TY  - JOUR 
AU  - Villa Suárez, Juan Miguel
AU  - García Fontana, Cristina
AU  - Andujar Vera, Francisco
AU  - González Salvatierra, Sheila
AU  - Haro Muñoz, Tomás de
AU  - Contreras Bolívar, Victoria
AU  - García Fontana, Beatriz
AU  - Muñoz Torres, Manuel Eduardo
PY  - 2021
UR  - http://hdl.handle.net/10481/68947
AB  - Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and...
LA  - eng
PB  - MDPI
KW  - Hypophosphatasia
KW  - TNSALP
KW  - Pyridoxal-5'-phosphate
KW  - Genotype-phenotype
KW  - Asfotase alfa
TI  - Hypophosphatasia: A Unique Disorder of Bone Mineralization
DO  - 10.3390/ijms22094303
ER  -