A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study-Reference-Cited by-同舟云学术

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A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study

Published:2019-08 Issue: Volume:125 Page:128-139
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Martins Luciane^ORCID,de Almeida Amanda Bandeira,dos Santos Elis Janaína Lira,Foster Brian L.,Machado Renato Assis^ORCID,Kantovitz Kamila Rosamilia,Coletta Ricardo D.,Nociti Francisco H.

Funder

National Council for Scientific and Technological Development

Coordination for the Improvement of Higher Education Personnel

Soft Bones

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference50 articles.

1. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment;Whyte;Nat Rev Endocrinol,2016

2. Hypophosphatasia: an overview for 2017;Whyte;Bone,2017

3. Hypophosphatasia;Mornet;Metabolism,2018

4. Hypophosphatasia: clinical manifestation and burden of disease in adult patients;Conti;Clin Cases Miner Bone Metab,2017

5. Genetics of hypophosphatasia;Mornet;Arch. Pediatr.,2017

Cited by 10 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. Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene;Frontiers in Endocrinology;2024-01-03

2. Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene;2023-10-11

3. Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single‐Center Study;ACR Open Rheumatology;2023-09-03

4. Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults;Genes;2023-04-16

5. Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface;International Journal of Molecular Sciences;2022-12-23

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