Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
- Author
- OBERMANNOVA, Barbora1 ; BANGHOVA, Karolina1 ; SUMNIK, Zdenek1 ; DVORAKOVA, Hana M2 ; BETKA, Jan3 ; FEND, Filip1 ; KOLOUSKOVA, Stanislava1 ; CINEK, Ondrej1 ; LEBL, Jan1
[1] Department of Paediatrics, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
[2] Department of Neonatology, Second Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
[3] Department of Otorhinolaryngology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic - Source
European journal of pediatrics. 2009, Vol 168, Num 5, pp 569-573, 5 p ; ref : 18 ref
- CODEN
- EJPEDT
- ISSN
- 0340-6199
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Bisphosphonates Hypercalcaemia Newborn Parathyroidectomy Primary hyperparathyroidism
- Keyword (fr)
- Antiostéoclastique Antiostéoporotique Bisphosphonates Calcium Elément minéral Grave Gène Génétique Hypercalcémie Hyperparathyroïdie Hétérozygotie Mutation Nouveau né Néonatal Parathyroïdectomie Phénotype Primaire Pédiatrie Traitement Forme grave Chirurgie Endocrinopathie Homme Pathologie des parathyroïdes Trouble de l'équilibre hydroélectrolytique Trouble métabolique
- Keyword (en)
- Antiosteoclastic agent Antiosteoporotic Bisphosphonates Calcium Inorganic element Severe Gene Genetics Hypercalcemia Hyperparathyroidism Heterozygosity Mutation Newborn Neonatal Parathyroidectomy Phenotype Primary Pediatrics Treatment Surgery Endocrinopathy Human Parathyroid diseases Hydroelectrolytic balance disorder Metabolic disorder
- Keyword (es)
- Antiosteoclástica Antiosteoporótico Bisfosfonatos Calcio Elemento inorgánico Grave Gen Genética Hipercalcemia Hiperparatiroidismo Heterozigosis Mutación Recién nacido Neonatal Paratiroidectomía Fenotipo Primario Pediatría Tratamiento Cirugía Endocrinopatía Hombre Paratiroides patología Trastorno equilibrio hidroelectrolítico Trastorno metabolismo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies / 002B21D Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) / 002B21D01 Non tumoral diseases. Target tissue resistance. Benign neoplasms
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B25 Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases / 002B25L Surgery of endocrine glands
- Discipline
- Endocrinopathies Generalities in medical sciences Surgery. Transplants, organs and tissues grafting. Graft pathologies
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21300447
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00431-008-0794-y 
https://dx.doi.org/10.1007/s00431-008-0794-y
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