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/10668/3519
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
PB  - MDPI
KW  - Hypophosphatasia
KW  - TNSALP
KW  - Pyridoxal-5′-phosphate
KW  - Genotype-phenotype
KW  - Asfotase alfa
KW  - Hipofosfatasia
KW  - Fosfato de piridoxal
KW  - Fosfatasa alcalina
KW  - Terapia de reemplazo enzimático
KW  - Mutación
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Esterases::Phosphoric Monoester Hydrolases::Alkaline Phosphatase
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Esterases::Phosphoric Monoester Hydrolases::Alkaline Phosphatase
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Metal Metabolism, Inborn Errors::Hypophosphatasia
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
TI  - Hypophosphatasia: A Unique Disorder of Bone Mineralization
TY  - review article
ER  -