Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1545-1549

  Finer, Gal ^a   Price, Heather E ^a,b   Shore, Richard M ^c   White, Kenneth E ^d   Langman, Craig B ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Acetazolamide; Calcifications; Calcium phosphate solubility; FGF23; GALNT3; Hyperphosphatemia; Hyperphosphatemic familial tumoral calcinosis; Metabolic acidosis

Indexed keywords

ACETAZOLAMIDE; CALCIUM PHOSPHATE; FIBROBLAST GROWTH FACTOR 23; PHOSPHATE; SEVELAMER CARBONATE; CARBONATE DEHYDRATASE INHIBITOR; CHELATING AGENT; FIBROBLAST GROWTH FACTOR; POLYAMINE; SEVELAMER;

ARTICLE; CANCER SURGERY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHILD GROWTH; DIET SUPPLEMENTATION; DISEASE SEVERITY; DNA SEQUENCE; FAMILIAL DISEASE; GALNT3 GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HYPERPHOSPHATEMIA; HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS; KIDNEY TUBULE ABSORPTION; METABOLIC ACIDOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOSPHATE BLOOD LEVEL; PHOSPHATE INTAKE; PRIORITY JOURNAL; SCHOOL CHILD; TREATMENT OUTCOME; TUMOR CALCINOSIS; TUMOR RECURRENCE; UPREGULATION; ACIDOSIS; AFRICAN AMERICAN; BLOOD; CALCINOSIS; CHEMICALLY INDUCED; GENETICS; HYPEROSTOSIS, CORTICAL, CONGENITAL; MALE;

ACETAZOLAMIDE; ACIDOSIS; AFRICAN AMERICANS; CALCINOSIS; CARBONIC ANHYDRASE INHIBITORS; CHELATING AGENTS; CHILD; FIBROBLAST GROWTH FACTORS; HUMANS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPERPHOSPHATEMIA; MALE; PHOSPHATES; POLYAMINES; SEVELAMER;

EID: 84899980960     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36476     Document Type: Article

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