Literature DB >> 16472269

Clinical findings in Niemann-Pick disease type B.

K Müssig1, K Harzer, H Mayrhofer, I Krägeloh-Mann, H-U Häring, F Machicao.   

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Year:  2006        PMID： 16472269     DOI： 10.1111/j.1445-5994.2005.01013.x

Source DB:  PubMed          Journal:  Intern Med J        ISSN： 1444-0903            Impact factor:   2.048


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  2 in total

1.  Niemann-Pick disease resulting in spontaneous splenic rupture in an adult: report of a case.

Authors:  Zihua Chen; Zhikang Chen; Shaobin Wu; Xianwei Wang
Journal:  Surg Today       Date:  2008-04-30       Impact factor: 2.549

2.  Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).

Authors:  Masoumeh Dehghan Manshadi; Behnam Kamalidehghan; Fatemeh Keshavarzi; Omid Aryani; Sepideh Dadgar; Ahoora Arastehkani; Mahdi Tondar; Fatemeh Ahmadipour; Goh Yong Meng; Massoud Houshmand
Journal:  Int J Mol Sci       Date:  2015-03-24       Impact factor: 5.923
  2 in total

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