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1.
Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD.
Rheumatology (Oxford)
; 60(9): 4055-4062, 2021 09 01.
Article
in English
| MEDLINE | ID: mdl-33331900
2.
Corrigendum to: Higher prevalence of non-skeletal comorbidity related to X-linked hypophosphataemia: a UK parallel cohort study using CPRD.
Rheumatology (Oxford)
; 60(6): 3036, 2021 Jun 18.
Article
in English
| MEDLINE | ID: mdl-33855337
3.
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Am J Med Genet A
; 170(12): 3150-3156, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27576954
4.
Vitamin D in childhood and adolescence: an expert position statement.
Eur J Pediatr
; 174(5): 565-76, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25833762
5.
PPIB mutations cause severe osteogenesis imperfecta.
Am J Hum Genet
; 85(4): 521-7, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19781681
6.
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
J Pediatr Endocrinol Metab
; 25(5-6): 419-26, 2012.
Article
in English
| MEDLINE | ID: mdl-22876533
7.
Zoledronic Acid vs Placebo in Pediatric Glucocorticoid-induced Osteoporosis: A Randomized, Double-blind, Phase 3 Trial.
J Clin Endocrinol Metab
; 106(12): e5222-e5235, 2021 11 19.
Article
in English
| MEDLINE | ID: mdl-34228102
8.
Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Article
in English
| MEDLINE | ID: mdl-31730177
9.
Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations.
Orphanet J Rare Dis
; 13(1): 142, 2018 08 16.
Article
in English
| MEDLINE | ID: mdl-30115096
10.
Genital anomalies in Klinefelter's syndrome.
Horm Res
; 68(3): 150-5, 2007.
Article
in English
| MEDLINE | ID: mdl-17641549
11.
Rickets.
Nat Rev Dis Primers
; 3: 17101, 2017 Dec 21.
Article
in English
| MEDLINE | ID: mdl-29265106
12.
Loss of Functional Osteoprotegerin: More Than a Skeletal Problem.
J Clin Endocrinol Metab
; 102(1): 210-219, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-27809640
13.
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
J Clin Endocrinol Metab
; 102(6): 2019-2028, 2017 06 01.
Article
in English
| MEDLINE | ID: mdl-28323974
14.
Nutritional rickets in immigrant and refugee children.
Public Health Rev
; 37: 3, 2016.
Article
in English
| MEDLINE | ID: mdl-29450045
15.
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
Diabetes
; 53(7): 1876-83, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15220213
16.
A Practical Approach to Hypocalcaemia in Children.
Endocr Dev
; 28: 84-100, 2015.
Article
in English
| MEDLINE | ID: mdl-26138837
17.
A Practical Approach to Vitamin D Deficiency and Rickets.
Endocr Dev
; 28: 119-133, 2015.
Article
in English
| MEDLINE | ID: mdl-26138839
19.
Is it my calcium, Doctor?
Arch Dis Child Educ Pract Ed
; 94(6): 169-76, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19933389
20.
Vitamin D and child health: part 2 (extraskeletal and other aspects).
Arch Dis Child
; 98(5): 368-72, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23493188