Osteoporosis-pseudoglioma syndrome: Three novel mutations in the LRP5 gene and response to bisphosphonate rreatment

Hormone Research in Paediatrics

Volumn 77, Issue 2, 2012, Pages 115-120

  Tuysuz B ^a   Bursal, A ^b   Alp, Z ^a   Suyugul N ^a   Laine, C M ^c   Makitie O ^c  

^a ISTANBUL UNIVERSITY   (Turkey)

^b Education and Research Hospital   (Turkey)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Bisphosphonates; LRP5; Osteoporosis; Pseudoglioma

Indexed keywords

CALCIFEDIOL; CALCIUM CARBONATE; GENOMIC DNA; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; PAMIDRONIC ACID; VITAMIN D;

ARTICLE; BLOOD SAMPLING; BONE DENSITY; BONE PAIN; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HOMOZYGOTE; HUMAN; LUMBAR SPINE; MALE; MISSENSE MUTATION; NORRIE DISEASE; OSTEOPENIA; OSTEOPOROSIS; OSTEOPOROSIS PSEUDOGLIOMA SYNDROME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY OF LIFE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; SYMPTOM; TREATMENT DURATION; TREATMENT RESPONSE; TURKEY (REPUBLIC); VISUAL IMPAIRMENT;

AMINO ACID SUBSTITUTION; BONE DENSITY; BONE DENSITY CONSERVATION AGENTS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CONSANGUINITY; DIPHOSPHONATES; DRUG RESISTANCE; EYE DISEASES; FEMALE; HETEROZYGOTE; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-5; MALE; MUTATION; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PAIN MEASUREMENT; TURKEY;

EID: 84858959852     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000336193     Document Type: Article

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