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Scandinavian Journal of Clinical and Laboratory Investigation Volume 60, 2000 - Issue 3
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Research Article

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families

P. Schwarz Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
N. E. Larsen Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
I. M. Lønborg Friis Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
K. Lillquist Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
,
E. M. Brown Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
&
S. Gammeltoft Department of Endocrinology 541, H:S Hvidovre Hospital, University of Copenhagen, Kettegaards Allé, DK-2650 Hvidovre, Denmark
Pages 221-228 | Published online: 08 Jul 2009

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Jacob Tfelt-Hansen & Edward M. Brown. (2005) THE CALCIUM-SENSING RECEPTOR IN NORMAL PHYSIOLOGY AND PATHOPHYSIOLOGY: A Review. Critical Reviews in Clinical Laboratory Sciences 42:1, pages 35-70.
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Articles from other publishers (14)

Jakob Höppner, Kathrin Sinningen, Adalbert Raimann, Barbara Obermayer-Pietsch & Corinna Grasemann. (2022) Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy. Journal of Clinical Medicine 11:9, pages 2595.
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Roshini Kurian, Gagan Madegowda Chandrashekar, Mc Anto Antony, Lakshya Chandra & Ravi Kant. (2021) Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia. Cureus.
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Jakob Höppner, Sabrina Lais, Claudia Roll, Andreas Wegener-Panzer, Dagmar Wieczorek, Wolfgang Högler & Corinna Grasemann. (2021) Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia. Frontiers in Endocrinology 12.
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Stephen J Marx & Ninet Sinaii. (2020) Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene . The Journal of Clinical Endocrinology & Metabolism 105:4, pages 1061-1078.
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Gemma Marcucci, Laura Masi, Loredana Cavalli, Caterina Fossi, Francesco Franceschelli & Maria Luisa Brandi. (2013) Is calcium signaling relevant for long bone growth?. Bone 57:1, pages 105-110.
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Friedhelm Raue & Christine Haag. 2012. Diseases of the Parathyroid Glands. Diseases of the Parathyroid Glands 69 90 .
Ogo I. Egbuna & Edward M. Brown. 2012. Diseases of the Parathyroid Glands. Diseases of the Parathyroid Glands 237 252 .
Anne Qvist Rasmussen, Niklas Rye Jørgensen & Peter Schwarz. (2011) Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series. Journal of Medical Case Reports 5:1.
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Rajiv Kumar & James R. Thompson. (2011) The Regulation of Parathyroid Hormone Secretion and Synthesis. Journal of the American Society of Nephrology 22:2, pages 216-224.
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Geoffrey N. Hendy, Vito Guarnieri & Lucie Canaff. 2009. 31 95 .
Ogo I. Egbuna & Edward M. Brown. (2008) Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Practice & Research Clinical Rheumatology 22:1, pages 129-148.
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Lisa Fox, Joel Sadowsky, Kevin P. Pringle, Alexa Kidd, Jean Murdoch, David E.C. Cole & Esko Wiltshire. (2007) Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant. Pediatrics 120:5, pages e1350-e1354.
Crossref
E.M. BROWN. 2007. Calcium Signalling and Disease. Calcium Signalling and Disease 139 167 .
Patti J. ThureenOussama Itani & Reginald Tsang. 2009. Neonatal Nutrition and Metabolism. Neonatal Nutrition and Metabolism 229 272 .

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