相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Pamidronate as first-line treatment of hypercalcemia in neonatal subcutaneous fat necrosis: A case series
Alexander D. Chesover et al.
PAEDIATRICS & CHILD HEALTH (2021)
Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene
Stephen J. Marx et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)
Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
Michael T. Gabbett et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia
Hiroshi Noda et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2020)
Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation
Abigail S. Eswarakumar et al.
CLINICAL PEDIATRICS (2020)
Literature review on congenital glucose-galactose malabsorption from 2001 to 2019
Weiyan Wang et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2020)
Hypoparathyroidism in pregnancy: review and evidence-based recommendations for management
Aliya A. Khan et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)
Molecular and clinical insights from studies of calcium-sensing receptor mutations
Caroline M. Gorvin
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2019)
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function G(11) Mutation
Caroline M. Gorvin et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2018)
Hypercalcemia: a consultant's approach
Ari Auron et al.
PEDIATRIC NEPHROLOGY (2018)
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism
Yoshiro Suzuki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia
Hiroshi Saito et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)
Blue Diaper Syndrome and PCSK1 Mutations
Felix Distelmaier et al.
PEDIATRICS (2018)
Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome
Sami A. Sanjad et al.
FRONTIERS IN ENDOCRINOLOGY (2018)
Neonatal lethal hypophosphatasia A case report and review of literature
Laura Castells et al.
MEDICINE (2018)
Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy A case report and literature review
Xiaomei Sun et al.
MEDICINE (2018)
Hypercalcemic Disorders in Children
Victoria J. Stokes et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2017)
Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology
Stephen J. Marx
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)
Severe hypercalcaemia and hypophosphataemia with an optimised preterm parenteral nutrition formulation in two epochs of differing phosphate supplementation
Shaveta Mulla et al.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION (2017)
N-ethyl-N-nitrosourea-Induced Adaptor Protein 2 Sigma Subunit 1 (Ap2s1) Mutations Establish Ap2s1 Loss-of-Function Mice
Caroline M. Gorvin et al.
JBMR PLUS (2017)
Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts
Bernhard Mayr et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Karl P. Schlingmann et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia
Sheela Nampoothiri et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia
Michael P. Whyte et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism
Dong Li et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)
Hypercalcemia in Patients with Williams-Beuren Syndrome
Sampat Sindhar et al.
JOURNAL OF PEDIATRICS (2016)
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations
Sarah A. Howles et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Purple urine bag syndrome in nursing homes: Ten elderly case reports and a literature review
For-Wey Lung
Clinical Interventions in Aging (2016)
Adrenal insufficiency presenting as hypercalcemia and acute kidney injury
Seung Won Ahn et al.
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL (2016)
Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients
Michael P. Whyte et al.
BONE (2015)
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects
Fadil M. Hannan et al.
HUMAN MOLECULAR GENETICS (2015)
CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait
A. Molin et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)
Angela Rogers et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Fourth International Workshop
Richard Eastell et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure
Giacomo Colussi et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2014)
Cardiovascular Disease in Williams Syndrome
R. Thomas Collins
CIRCULATION (2013)
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis
Galina Nesterova et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
Determination of Reference Intervals for Serum Total Calcium in the Vitamin D-Replete Pediatric Population
Jeffrey D. Roizen et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
Refeeding syndrome in very-low-birth-weight intrauterine growth-restricted neonates
J. R. Ross et al.
JOURNAL OF PERINATOLOGY (2013)
Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-Hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis
Dganit Dinour et al.
JOURNAL OF UROLOGY (2013)
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
M. Andrew Nesbit et al.
NATURE GENETICS (2013)
Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia
M. Andrew Nesbit et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia
Laura Onuchic et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)
A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)2 vitamin D levels
Amita Sharma et al.
CLINICAL AND EXPERIMENTAL NEPHROLOGY (2011)
Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet
Christina M. S. Reh et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia
Karl P. Schlingmann et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Williams-Beuren syndrome: historical aspects
Walter E. Berdon et al.
PEDIATRIC RADIOLOGY (2011)
Subcutaneous Fat Necrosis After Moderate Therapeutic Hypothermia in Neonates
Brenda Strohm et al.
PEDIATRICS (2011)
MEDICAL PROGRESS Williams-Beuren Syndrome
Barbara R. Pober
NEW ENGLAND JOURNAL OF MEDICINE (2010)
BRIEF REPORT A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome
Daniella Magen et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia
Uri S. Alon et al.
PEDIATRIC NEPHROLOGY (2010)
Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress
N. Demirel et al.
ANNALS OF TROPICAL PAEDIATRICS (2009)
Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden
Frida Renstrom et al.
HUMAN MOLECULAR GENETICS (2009)
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
Signe Engkjaer Christensen et al.
CLINICAL ENDOCRINOLOGY (2008)
Endocrine functions of bone in mineral metabolism regulation
L. Darryl Quarles
JOURNAL OF CLINICAL INVESTIGATION (2008)
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene
Judit Toke et al.
CLINICAL ENDOCRINOLOGY (2007)
Long-term follow-up of patients with idiopathic infantile hypercalcaemia
Jianping Huang et al.
PEDIATRIC NEPHROLOGY (2006)
CLINICAL REVIEW: Rare causes of hypercalcemia
TP Jacobs et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Familial occurrence of the IMAGe association:: Additional clinical variants and a proposed mode of inheritance
I Bergadá et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population
S Amenta et al.
PEDIATRIC RESEARCH (2005)
Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate
AP Cagle et al.
PEDIATRICS (2004)
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation
M Bastepe et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
D Prié et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Prevalence estimation of Williams syndrome
P Stromme et al.
JOURNAL OF CHILD NEUROLOGY (2002)