Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates

Bone

Volumn 43, Issue 3, 2008, Pages 584-590

  Streeten, Elizabeth A ^a   McBride, Daniel ^a   Puffenberger, Eric ^b   Hoffman, Marc E ^c   Pollin, Toni I ^a   Donnelly, Patrick ^a   Sack, Paul ^a   Morton, Holmes ^b  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

Blindness; Compound heterozygote; Juvenile osteoporosis; LRP5; Osteoporosis pseudoglioma

Indexed keywords

25 HYDROXYVITAMIN D; ALENDRONIC ACID; BISPHOSPHONIC ACID DERIVATIVE; CALCIUM; COLECALCIFEROL; GENOMIC DNA; PAMIDRONIC ACID; PARATHYROID HORMONE[1-34]; RISEDRONIC ACID;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL BLINDNESS; CONTROLLED STUDY; DNA SEQUENCE; DOSE RESPONSE; DRUG DOSE INCREASE; DRUG DOSE TITRATION; DRUG RESPONSE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FEMALE; GENE; GENE MUTATION; HUMAN; INFANT; JUVENILE OSTEOPOROSIS; LRP5 GENE; MALE; MULTIPLE CYCLE TREATMENT; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS PSEUDOGLIOMA SYNDROME; SCORING SYSTEM; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; BONE DENSITY; BONE DENSITY CONSERVATION AGENTS; CHILD; CHILD, PRESCHOOL; DIPHOSPHONATES; FEMALE; GLIOMA; HUMANS; INFANT; MALE; OSTEOPOROSIS; PEDIGREE; PHENOTYPE;

EID: 49149107135     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2008.04.020     Document Type: Article

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