Neonatal severe hyperparathyroidism: Genotype/phenotype correlation and the use of pamidronate as rescue therapy

European Journal of Pediatrics

Volumn 163, Issue 10, 2004, Pages 589-594

  Waller, Simon ^a   Kurzawinski, Tom ^b   Spitz, Lewis ^c   Thakker, Rajesh ^d   Cranston, Treena ^e   Pearce, Simon ^f   Cheetham, Tim ^f   Van't Hoff, William G ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Calcium sensing receptor; Familial hypocalciuric hypercalcaemia; Parathyroidectomy

Indexed keywords

ALFACALCIDOL; CALCIUM; CALCIUM SENSING RECEPTOR; FUROSEMIDE; HYDROCORTISONE; PAMIDRONIC ACID; PHOSPHATE;

ARTICLE; BONE DEMINERALIZATION; CLINICAL ARTICLE; FEMALE; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; MALE; NEONATAL SEVERE HYPERPARATHYROIDISM; NEWBORN; NEWBORN DISEASE; PARATHYROIDECTOMY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL;

ANTINEOPLASTIC AGENTS; DEHYDRATION; DIPHOSPHONATES; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT, NEWBORN; MALE; PARATHYROID GLANDS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; TREATMENT OUTCOME;

EID: 5444235525     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1491-0     Document Type: Article

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