Detalhe da pesquisa
1.
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.
Proc Natl Acad Sci U S A
; 120(8): e2208047120, 2023 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795755
2.
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Osteoporos Int
; 35(3): 439-449, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982856
3.
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Osteoporos Int
; 35(3): 431-438, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982857
4.
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Osteoporos Int
; 35(1): 1-10, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37982855
5.
Orthodontic treatment in children and adolescent patients with X-linked hypophosphatemia: A case-control study.
Orthod Craniofac Res
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38610107
6.
Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1.
J Clin Immunol
; 44(1): 5, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112858
7.
Nutri-Score: Its Benefits and Limitations in Children's Feeding.
J Pediatr Gastroenterol Nutr
; 76(3): e46-e60, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399776
8.
X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.
Pediatr Nephrol
; 38(3): 697-704, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35758999
9.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clin Chem
; 68(2): 313-321, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871369
10.
Imaging patterns in pediatric hypophosphatasia.
Pediatr Radiol
; 52(5): 998-1006, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34854966
11.
Burosumab Therapy in Children with X-Linked Hypophosphatemia.
N Engl J Med
; 378(21): 1987-1998, 2018 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29791829
12.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098107
13.
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Clin Endocrinol (Oxf)
; 93(3): 248-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347971
14.
Dental and craniofacial features associated with GNAS loss of function mutations.
Eur J Orthod
; 42(5): 525-533, 2020 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696922
15.
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Osteoporos Int
; 35(5): 933-934, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498158
16.
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.
BMC Musculoskelet Disord
; 20(1): 80, 2019 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764793
17.
Impaired mineral quality in dentin in X-linked hypophosphatemia.
Connect Tissue Res
; 59(sup1): 91-96, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29745817
18.
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Mol Genet Metab
; 122(1-2): 4-17, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28888853
19.
The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.
Pediatr Endocrinol Rev
; 15(Suppl 1): 92-97, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29292871
20.
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
J Biol Chem
; 290(46): 27816-28, 2015 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26405036