Hypophosphatasia: from birth to adulthood.

Adult Infant, Newborn Humans Alkaline Phosphatase / metabolism Hypophosphatasia / therapy Osteoporosis / drug therapy Enzyme Replacement Therapy
Hypophosphatasia TNSALP mutation alkaline phosphatase asfotase alfa

Journal

Archives of endocrinology and metabolism
ISSN: 2359-4292
Titre abrégé: Arch Endocrinol Metab
Pays: Brazil
ID NLM: 101652058

Informations de publication

Date de publication:
25 May 2023
Historique:
medline: 1 6 2023
pubmed: 30 5 2023
entrez: 30 5 2023
Statut: ppublish

Résumé

Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules. Decreased alkaline phosphatase activity leads to the accumulation of three main metabolites,

Identifiants

DOI: 10.20945/2359-3997000000626 PMID: 37249457 PMC: PMC10665056
pubmed: 37249457
pii: 2359-3997000000626
doi: 10.20945/2359-3997000000626
pmc: PMC10665056
doi:
pii:

Substances chimiques

Alkaline Phosphatase EC 3.1.3.1

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

e000626

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Auteurs

Fernanda Salles Reis (FS)

Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, Brasil.

Marise Lazaretti-Castro (M)

Departamento de Medicina, Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, Brasil, marise.lazaretti@imabrasil.com.br.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Hypophosphatasia: from birth to adulthood.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Hypophosphatasia: from birth to adulthood.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hypophosphatasia: from birth to adulthood.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Esterases › Phosphoric monoester hydrolases › Phosphatase alcaline › Hypophosphatasia: from birth to adulthood.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme des métaux › Hypophosphatasie › Hypophosphatasia: from birth to adulthood.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies osseuses métaboliques › Ostéoporose › Hypophosphatasia: from birth to adulthood.
questionsmedicales.fr › Thérapeutique › Traitement médicamenteux › Thérapie enzymatique › Thérapie enzymatique substitutive › Hypophosphatasia: from birth to adulthood.