Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1

Journal of Pediatric Endocrinology and Metabolism

Volumn 28, Issue 7-8, 2015, Pages 967-970

  Steichen Gersdorf, Elisabeth ^a   Lorenz Depiereux, Bettina ^b   Strom, Tim Matthias ^b   Shaw, Nicholas J ^c  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Helmholz Centre   (Germany)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

autosomal recessive hypophosphatemic rickets; ENPP1; generalized arterial calcification of infancy; hearing loss

Indexed keywords

ALFACALCIDOL; ALISKIREN; ALKALINE PHOSPHATASE; CALCITRIOL; FIBROBLAST GROWTH FACTOR 23; METOPROLOL; PHOSPHATE; QUININE; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; INORGANIC PYROPHOSPHATASE; PHOSPHODIESTERASE;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTERY INTIMA PROLIFERATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; BONE PAIN; CASE REPORT; CHILD; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; ENPP1 GENE; EXON; FEEDING DIFFICULTY; FEMALE; GENE; HEARING AID; HEART VENTRICLE HYPERTROPHY; HETEROZYGOTE; HUMAN; HYPERPHOSPHATEMIA; HYPERRENINEMIA; HYPERTENSION; HYPOPHOSPHATEMIC RICKETS; INTRON; KIDNEY ARTERY STENOSIS; KIDNEY TUBULE ABSORPTION; LOSS OF FUNCTION MUTATION; MALE; MEDICAL EXAMINATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHOSPHATE BLOOD LEVEL; VALGUS DEFORMITY; VALGUS KNEE; VARUS DEFORMITY; COMPLICATION; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETICS; HEARING LOSS; MUTATION; NEWBORN; ONSET AGE; PATHOLOGY; PROGNOSIS;

AGE OF ONSET; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; HEARING LOSS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PHOSPHORIC DIESTER HYDROLASES; PROGNOSIS; PYROPHOSPHATASES;

EID: 84937879209     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2014-0531     Document Type: Article

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