Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia

Introduction X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondar...

Full description

Autores:

Román González, Alejandro
Kastelic, Maria Sofia
Colares Neto, Guido De Paula
Albuquerque de Paula, Francisco José
Reza Albarrán, Alfredo Adolfo
Reyes Morales, Lilian
Tormo, Silvina
Meza Martínez, Adriana Isabel

Tipo de recurso:

Article of investigation

Fecha de publicación:

2024

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/48379

Acceso en línea:

https://hdl.handle.net/10495/48379

Palabra clave:

Consenso
Consensus
Hipofosfatemia
Hypophosphatemia
Vitamina D
Vitamin D
Raquitismo Hipofosfatémico Familiar - genética
Familial Hypophosphatemic Rickets - genetics
Factores de Crecimiento de Fibroblastos - genética
Fibroblast Growth Factors - genetics
Osteomalacia
Calidad de Vida
Quality of Life
X-linked hypophosphatemia
Transition
Bone metabolism disorders
https://id.nlm.nih.gov/mesh/D032921
https://id.nlm.nih.gov/mesh/D017674
https://id.nlm.nih.gov/mesh/D014807
https://id.nlm.nih.gov/mesh/D053098
https://id.nlm.nih.gov/mesh/D005346
https://id.nlm.nih.gov/mesh/D010018
https://id.nlm.nih.gov/mesh/D011788

Rights

openAccess

License

http://creativecommons.org/licenses/by/4.0/