Hearing loss is part of the clinical picture of ENPP1 loss of function mutation

Hormone Research in Paediatrics

Volumn 81, Issue 1, 2014, Pages 63-66

  Brachet, C ^a,c   Mansbach, A L ^b   Clerckx, A ^c   Deltenre, P ^d   Heinrichs, C ^a  

^a Pediatric Endocrinology Unit   (Belgium)

^b Pediatric Otorhinolaryngology   (Belgium)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^d BRUGMANN UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Autosomal recessive hypophosphatemic rickets; ENPP1; Generalized arterial calcification of infancy; Hearing loss

Indexed keywords

1 ALPHA VITAMIN D; BISPHOSPHONIC ACID DERIVATIVE; CAPTOPRIL; ECTO NUCLEOTIDE PYROPHOSPHATASE PHOSPHODIETERASE 1; ETIDRONIC ACID; NUCLEOTIDE PYROPHOSPHATASE; PHOSPHORE MEDIFA; PHOSPHORUS; SPIRONOLACTONE; UNCLASSIFIED DRUG; VITAMIN D; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; INORGANIC PYROPHOSPHATASE; PHOSPHODIESTERASE;

ANTIHYPERTENSIVE THERAPY; APGAR SCORE; ARTERY CALCIFICATION; ARTICLE; BIRTH WEIGHT; BRAIN STEM; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; CONGESTIVE HEART FAILURE; EARDRUM; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE DELETION; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEART VENTRICLE HYPERTROPHY; HOMOZYGOTE; HUMAN; HYDRAMNIOS; HYPOPHOSPHATEMIA; INNER EAR; LOSS OF FUNCTION MUTATION; MATERNAL HYPERTENSION; MIXED HEARING LOSS; MONOZYGOTIC TWINS; NEUROTRANSMISSION; NON INSULIN DEPENDENT DIABETES MELLITUS; OTOSCOPY; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; RENOVASCULAR HYPERTENSION; RICKETS; TOOTH ABSCESS; TYMPANOSTOMY TUBE; ADULT; ECTO NUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1 GENE; ENDOCARDIAL CALCIFICATION; ENDOCARDIAL DISEASE; FAMILY HISTORY; GENE; GENE SEQUENCE; GENERALIZED ARTERIAL CALCIFICATION OF INFANCY; INFANT DISEASE; NEWBORN; PRESCHOOL CHILD; SCHOOL CHILD; X RAY; COMPLICATION; CONSANGUINITY; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETICS; MUTATION;

ADULT; CONSANGUINITY; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; HEARING LOSS; HUMANS; MUTATION; PHOSPHORIC DIESTER HYDROLASES; PYROPHOSPHATASES;

EID: 84897837865     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000354661     Document Type: Article

References (18)

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