Osteoporosis-pseudoglioma syndrome (vol 54, pg 1935, 2024)

被引:0
|
作者
Kandula, Ashrith [1 ]
Schenker, Kathleen [1 ]
Averill, Lauren [1 ]
机构
[1] Nemours Childrens Hosp, Dept Radiol, Wilmington, DE 19803 USA
关键词
D O I
10.1007/s00247-024-06094-1
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页数:1
相关论文
共 50 条
  • [31] Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome
    Lev, D
    Binson, I
    Foldes, AJ
    Watemberg, N
    Lerman-Sagie, T
    ISRAEL MEDICAL ASSOCIATION JOURNAL, 2003, 5 (06): : 419 - 421
  • [32] A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome
    E. R. Barros
    M. R. Dias da Silva
    I. S. Kunii
    O. M. Hauache
    M. Lazaretti-Castro
    Osteoporosis International, 2007, 18 : 1017 - 1018
  • [33] Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)
    Celli, M.
    D'Eufemia, P.
    Persiani, P.
    Turchetti, A.
    Febbo, A.
    D'Alfonso, Y.
    Celli, L.
    Zambrano, A.
    OSTEOPOROSIS INTERNATIONAL, 2017, 28 (11) : 3277 - 3280
  • [34] Novel Homozygous LRP5 Mutations in Patients with Osteoporosis-Pseudoglioma Syndrome
    Saffari, Fatemeh
    Heidari, Abolfazl
    Esmailzadehha, Neda
    Homaei, Ali
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 139 - 139
  • [35] Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome
    Lai, TYY
    Wong, VWY
    Lam, DSC
    ARCHIVES OF OPHTHALMOLOGY, 2006, 124 (03) : 422 - 423
  • [36] Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates
    Streeten, Elizabeth A.
    McBride, Daniel
    Puffenberger, Eric
    Hoffman, Marc E.
    Pollin, Toni I.
    Donnelly, Patrick
    Sack, Paul
    Morton, Holmes
    BONE, 2008, 43 (03) : 584 - 590
  • [37] A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome
    Barros, E. R.
    Dias da Silva, M. R.
    Kunii, I. S.
    Hauache, O. M.
    Lazaretti-Castro, M.
    OSTEOPOROSIS INTERNATIONAL, 2007, 18 (07) : 1017 - 1018
  • [38] Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome
    Astiazaran, Mirena C.
    Cervantes-Sodi, Maria
    Rebolledo-Enriquez, Erick
    Chacon-Camacho, Oscar
    Villegas, Vanessa
    Carlos Zenteno, Juan
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2017, 21 (12) : 742 - 746
  • [39] Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
    C M Laine
    B D Chung
    M Susic
    T Prescott
    O Semler
    T Fiskerstrand
    P D'Eufemia
    M Castori
    M Pekkinen
    E Sochett
    W G Cole
    C Netzer
    O Mäkitie
    European Journal of Human Genetics, 2011, 19 : 875 - 881
  • [40] Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-pseudoglioma Syndrome (OPPG): A Case Report
    Homaei, Ali
    Chegini, Victoria
    Saffari, Fatemeh
    INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2022, 20 (02)