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Title
Hypercalcemic Disorders in Children
Authors
Keywords
-
Journal
JOURNAL OF BONE AND MINERAL RESEARCH
Volume 32, Issue 11, Pages 2157-2170
Publisher
Wiley
Online
2017-09-15
DOI
10.1002/jbmr.3296
References
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Note: Only part of the references are listed.- Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases
- (2017) Ewa Pronicka et al. JOURNAL OF APPLIED GENETICS
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- (2016) Bin Guan et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2016) J D McNeilly et al. ARCHIVES OF DISEASE IN CHILDHOOD
- The other side of vitamin D therapy: a case series of acute kidney injury due to malpractice-related vitamin D intoxication
- (2016) Muzafar Wani et al. CLINICAL NEPHROLOGY
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- Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype
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- (2016) Blanca R. Del Pozzo-Magaña et al. PEDIATRIC DERMATOLOGY
- Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
- (2016) Anna Papadopoulou et al. Journal of Clinical Research in Pediatric Endocrinology
- Hypophosphatasia
- (2016) Agnès Linglart et al. Current Osteoporosis Reports
- Multiple endocrine neoplasia syndromes 1 and 2: manifestations and management in childhood and adolescence
- (2015) D Giri et al. ARCHIVES OF DISEASE IN CHILDHOOD
- A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
- (2015) Walid Fazeli et al. BMC GASTROENTEROLOGY
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- (2015) Fadil M. Hannan et al. HUMAN MOLECULAR GENETICS
- MEN1 Disease Occurring Before 21 Years Old: A 160-Patient Cohort Study From the Groupe d'étude des Tumeurs Endocrines
- (2015) P. Goudet et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Metabolic abnormalities in Williams–Beuren syndrome
- (2015) María Gabriela Palacios-Verdú et al. JOURNAL OF MEDICAL GENETICS
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- (2015) Itai Gross et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Thiazide Diuretics in the Management of Young Children with Central Diabetes Insipidus
- (2015) Alaa Al Nofal et al. JOURNAL OF PEDIATRICS
- Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
- (2015) K. P. Schlingmann et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet
- (2014) Zeynep Atay et al. BONE
- Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review
- (2014) Maria Yavropoulou et al. Hormones-International Journal of Endocrinology and Metabolism
- Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake
- (2014) Dganit Dinour et al. PEDIATRIC NEPHROLOGY
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- (2014) Alberto Bettinelli et al. PEDIATRIC NEPHROLOGY
- Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism
- (2013) Fadil M. Hannan et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Identification ofAP2S1Mutation and Effects of Low Calcium Formula in an Infant With Hypercalcemia and Hypercalciuria
- (2013) Yasuko Fujisawa et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Cinacalcet Monotherapy in Neonatal Severe Hyperparathyroidism: A Case Study and Review
- (2013) Anthony W. Gannon et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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- (2013) Dganit Dinour et al. JOURNAL OF UROLOGY
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- (2013) Rajesh V. Thakker MOLECULAR AND CELLULAR ENDOCRINOLOGY
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- Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
- (2013) M. Andrew Nesbit et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (2013) Jessica Costa-Guda et al. Hormones & Cancer
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- (2012) Justin H Davies et al. ARCHIVES OF DISEASE IN CHILDHOOD
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- (2011) Chadi M. El Saleeby et al. NEW ENGLAND JOURNAL OF MEDICINE
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- Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006
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- A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia
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- (2010) Steven A Lietman et al. CURRENT OPINION IN PEDIATRICS
- First report of ectopic ACTH syndrome and PTHrP-induced hypercalcemia due to a hepatoblastoma in a child
- (2010) Thomas G P Grunewald et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
- (2010) Paul J. Newey et al. HUMAN MUTATION
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- Williams–Beuren Syndrome
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- (2009) Paul J. Newey et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Hyperparathyroidism–jaw tumor syndrome: a report of three large kindred
- (2009) Maurizio Iacobone et al. LANGENBECKS ARCHIVES OF SURGERY
- Medullary Thyroid Cancer: Management Guidelines of the American Thyroid Association
- (2009) Richard T. Kloos (Chair) et al. THYROID
- Expression of 25-hydroxyvitamin D3-1α-hydroxylase in subcutaneous fat necrosis
- (2008) A. Farooque et al. BRITISH JOURNAL OF DERMATOLOGY
- Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods
- (2008) Signe Engkjaer Christensen et al. CLINICAL ENDOCRINOLOGY
- Bisphosphonate nephrotoxicity
- (2008) Mark A. Perazella et al. KIDNEY INTERNATIONAL
- PTHMutation with Primary Hyperparathyroidism and Undetectable Intact PTH
- (2008) Amy Y.M. Au et al. NEW ENGLAND JOURNAL OF MEDICINE
- Hypercalcemia and 13-cis-retinoic acid in post-consolidation therapy of neuroblastoma
- (2008) Aurélien Marabelle et al. PEDIATRIC BLOOD & CANCER
- Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene
- (2007) Fadil M Hannan et al. Nature clinical practice. Endocrinology & metabolism
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