Deficiencia de vitamina D en la edad adulta: presentación de 2 casos familiares de seudohipoparatiroidismo-Reference-Cited by-同舟云学术

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Deficiencia de vitamina D en la edad adulta: presentación de 2 casos familiares de seudohipoparatiroidismo

Published:2023-12 Issue:11 Volume:161 Page:493-497
ISSN:0025-7753
Container-title:Medicina Clínica
language:es
Short-container-title:Medicina Clínica

Author:

Manero-Azua África,Pereda Arrate,González Cabrera Natalia,Martínez de Salinas Santamaría M. Ángeles,Cámara Balda Alejandro,Pérez de Nanclares Guiomar

Funder

Carlos III Health Institute

Basque Government Department of Health and Consumer Affairs

Publisher

Elsevier BV

Subject

General Medicine

Reference10 articles.

1. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network;Thiele;Eur J Endocrinol.,2016

2. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement;Mantovani;Nat Rev Endocrinol.,2018

3. Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2;Vado;Front Endocrinol (Lausanne).,2023

4. Genetics of vitamin D 1α-hydroxylase deficiency in 17 families;Wang;Am J Hum Genet.,1998

5. Diagnosis and management of vitamin D dependent rickets;Levine;Front Pediatr.,2020

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations;American Journal of Medical Genetics Part A;2024-06

2. Vitamin D deficiency or resistance and hypophosphatemia;Best Practice & Research Clinical Endocrinology & Metabolism;2024-03

3. Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS);Genes;2024-01-18

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