Literature DB >> 20028884

Imaging manifestations of Niemann-Pick disease type B.

William L Simpson1, David Mendelson, Melissa P Wasserstein, Margaret M McGovern.   

Abstract

OBJECTIVE: The purpose of this article is to illustrate the various imaging manifestations of Niemann-Pick disease type B using various imaging techniques emphasizing cross-sectional imaging.
CONCLUSION: Niemann-Pick disease type B is a multisystem disease that affects the pulmonary, cardiovascular, abdominal, and skeletal systems. Cross-sectional imaging is well suited for detecting and assessing the various manifestations of this disease, which can be highly suggestive of the diagnosis when seen in combination.

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Year:  2010        PMID: 20028884     DOI: 10.2214/AJR.09.2871

Source DB:  PubMed          Journal:  AJR Am J Roentgenol        ISSN: 0361-803X            Impact factor:   3.959


  5 in total

Review 1.  Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.

Authors:  Felipe Mussi von Ranke; Heloisa Maria Pereira Freitas; Alexandre Dias Mançano; Rosana Souza Rodrigues; Bruno Hochhegger; Dante Escuissato; Cesar Augusto Araujo Neto; Thiago Krieger Bento da Silva; Edson Marchiori
Journal:  Lung       Date:  2016-05-10       Impact factor: 2.584

2.  Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Authors:  Bilal Azab; Omar Rabab'h; Dunia Aburizeg; Hashim Mohammad; Zain Dardas; Lina Mustafa; Ruba A Khasawneh; Heyam Awad; Ma'mon M Hatmal; Eyad Altamimi
Journal:  Genes (Basel)       Date:  2022-05-29       Impact factor: 4.141

3.  Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Authors:  Huiwen Zhang; Yu Wang; Zhuwen Gong; Xiaoyan Li; Wenjuan Qiu; Lianshu Han; Jun Ye; Xuefan Gu
Journal:  Orphanet J Rare Dis       Date:  2013-01-28       Impact factor: 4.123

4.  Niemann-Pick disease type B: HRCT assessment of pulmonary involvement.

Authors:  Heloisa Maria Pereira Freitas; Alexandre Dias Mançano; Rosana Souza Rodrigues; Bruno Hochhegger; Pedro Paulo Teixeira E Silva Torres; Dante Escuissato; Cesar Augusto Araujo Neto; Edson Marchiori
Journal:  J Bras Pneumol       Date:  2017 Nov-Dec       Impact factor: 2.624

5.  Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).

Authors:  Lucyna Opoka; Dorota Wyrostkiewicz; Piotr Radwan-Rohrenschef; Adriana Roży; Anna Tylki-Szymańska; Witold Tomkowski; Monika Szturmowicz
Journal:  Am J Case Rep       Date:  2020-08-06
  5 in total

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