Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 8, 2004, Pages 3721-3730

  Ward, Bryan K ^a,b   Magno, Aaron L ^a,b   Davis, Elizabeth A ^c   Hanyaloglu, Aylin C ^a   Stuckey, Bronwyn G A ^b   Burrows, Mark ^c   Eidne, Karin A ^a   Charles, Adrian K ^c   Ratajczak, Thomas ^a,b,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^c PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; PAMIDRONIC ACID; PARATHYROID HORMONE;

ALLELE; BRAIN DEVELOPMENT; CALCIUM BLOOD LEVEL; CALCIUM CELL LEVEL; CASE REPORT; CELL LINE; CELL MEMBRANE; CHEMICAL ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONFERENCE PAPER; CONFOCAL MICROSCOPY; CYTOPLASM; FAILURE TO THRIVE; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; GENE DELETION; GENE EXPRESSION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT; IRRITABILITY; MALE; MUSCLE HYPOTONIA; MUSCLE TONE; MUTATIONAL ANALYSIS; OSTEOPENIA; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROIDECTOMY; POINT MUTATION; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SALURESIS; SEQUENCE ANALYSIS; STOP CODON; WESTERN BLOTTING;

ALLELES; ARGININE; BASE SEQUENCE; BONE AND BONES; BRAIN; CALCIUM; CELL LINE; CELL MEMBRANE; CODON, TERMINATOR; CYTOPLASM; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENE EXPRESSION; GLYCINE; HAND; HETEROZYGOTE; HUMANS; HYPERPARATHYROIDISM; INFANT; MALE; PEDIGREE; POINT MUTATION; RECEPTORS, CALCIUM-SENSING; TOMOGRAPHY, X-RAY COMPUTED;

EID: 4043064887     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-031653     Document Type: Conference Paper

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