Detalhe da pesquisa
1.
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
PLoS Genet
; 12(7): e1006156, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441836
2.
A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for Hypophosphatasia.
J Pediatr
; 172: 181-186.e1, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26896157
3.
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Hum Mol Genet
; 21(22): 4904-9, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22875837
4.
The relationship between bone mass and body composition in children with hypothalamic and simple obesity.
Clin Endocrinol (Oxf)
; 80(1): 85-91, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23745601
5.
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
Eur J Endocrinol
; 184(5): K15-K20, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33690157
6.
Regional changes in bone area and bone mineral content in boys with duchenne muscular dystrophy receiving corticosteroid therapy.
J Pediatr
; 156(3): 450-5, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19880140
7.
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.
Eur J Endocrinol
; 180(3): 213-221, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30566905
8.
Efficacy and treatment costs of zoledronate versus pamidronate in paediatric osteoporosis.
Arch Dis Child
; 103(1): 92-94, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28988216
9.
CYP3A4 mutation causes vitamin D-dependent rickets type 3.
J Clin Invest
; 128(5): 1913-1918, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29461981
10.
Amalgamated Reference Data for Size-Adjusted Bone Densitometry Measurements in 3598 Children and Young Adults-the ALPHABET Study.
J Bone Miner Res
; 32(1): 172-180, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27490028
11.
Estradiol: micrograms or milligrams.
Endocrinol Diabetes Metab Case Rep
; 2016: 150096, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26843960
12.
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
J Pediatr Endocrinol Metab
; 28(7-8): 967-70, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25741938
13.
Rapid skeletal turnover in a radiographic mimic of osteopetrosis.
J Bone Miner Res
; 29(12): 2601-9, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24919763
14.
Clinical characteristics and management of cranial diabetes insipidus in infants.
J Pediatr Endocrinol Metab
; 26(11-12): 1041-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751384
15.
Investigation and management of hypercalcaemia in children.
Arch Dis Child
; 97(6): 533-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22447996
16.
Successful public health action to reduce the incidence of symptomatic vitamin D deficiency.
Arch Dis Child
; 97(11): 952-4, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22913973
17.
Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis.
J Bone Miner Res
; 30(8): 1537, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26183677
18.
Response to: A rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis.
J Bone Miner Res
; 30(5): 946, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25588359
19.
Vitamin D deficiency rickets.
Endocr Dev
; 6: 93-104, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12964428
20.
Management of osteoporosis in children.
Eur J Endocrinol
; 159 Suppl 1: S33-9, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18772270