Literature DB >> 25451018

Papilledema from craniosynostosis in pycnodysostosis.

Sung-eun E Kyung1, Jonathan C Horton2.   

Abstract

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Year:  2014        PMID: 25451018      PMCID: PMC4642925          DOI: 10.1016/j.pediatrneurol.2014.09.021

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


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  4 in total

1.  Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.

Authors:  Débora Bertola; Cassio Amaral; Chong Kim; Lilian Albano; Meire Aguena; Maria Rita Passos-Bueno
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

2.  Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.

Authors:  B D Gelb; G P Shi; H A Chapman; R J Desnick
Journal:  Science       Date:  1996-08-30       Impact factor: 47.728

3.  Craniosynostosis: A rare complication of pycnodysostosis.

Authors:  Sara Osimani; Isabelle Husson; Sandrine Passemard; Monique Elmaleh; Laurence Perrin; Chloé Quelin; Isabelle Marey; Olivier Delalande; Mirella Filocamo; Alain Verloes
Journal:  Eur J Med Genet       Date:  2010-01-05       Impact factor: 2.708

Review 4.  Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.

Authors:  Yang Xue; Tao Cai; Songtao Shi; Weiguang Wang; Yanli Zhang; Tianqiu Mao; Xiaohong Duan
Journal:  Orphanet J Rare Dis       Date:  2011-05-10       Impact factor: 4.123

  4 in total
  2 in total

Review 1.  Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.

Authors:  Matthew T Drake; Bart L Clarke; Merry Jo Oursler; Sundeep Khosla
Journal:  Endocr Rev       Date:  2017-08-01       Impact factor: 19.871

2.  Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Authors:  Khalda Sayed Amr; Hala T El-Bassyouni; Sawsan Abdel Hady; Mostafa I Mostafa; Mennat I Mehrez; Domenico Coviello; Ghada Y El-Kamah
Journal:  Genes (Basel)       Date:  2021-09-29       Impact factor: 4.096

  2 in total

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