TY  - JOUR
AU  - Villa-Suárez, Juan Miguel
AU  - García-Fontana, Cristina
AU  - Andújar-Vera, Francisco
AU  - González-Salvatierra, Sheila
AU  - de Haro-Muñoz, Tomás
AU  - Contreras-Bolívar, Victoria
AU  - García-Fontana, Beatriz
AU  - Muñoz-Torres, Manuel
PY  - 2021
DO  - 10.3390/ijms22094303
UR  - http://hdl.handle.net/10668/17676
T2  - International journal of molecular sciences
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  - en
KW  - TNSALP
KW  - asfotase alfa
KW  - genotype-phenotype
KW  - hypophosphatasia
KW  - pyridoxal-5′-phosphate
KW  - Alkaline Phosphatase
KW  - Calcinosis
KW  - Enzyme Replacement Therapy
KW  - Humans
KW  - Hypophosphatasia
KW  - Mutation
TI  - Hypophosphatasia: A Unique Disorder of Bone Mineralization.
TY  - research article
VL  - 22
ER  -