Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K

doi:10.1055/s-2003-44668

Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K

Neuropediatrics ◽

10.1055/s-2003-44668 ◽

2003 ◽

Vol 34 (6) ◽

pp. 301-306 ◽

Cited By ~ 25

Keyword(s):

Type A ◽

Laboratory Diagnosis ◽

Disease Type ◽

Sphingomyelinase Deficiency ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C

Journal of Inherited Metabolic Disease ◽

10.1007/s10545-006-0363-3 ◽

2006 ◽

Vol 29 (5) ◽

pp. 647-652 ◽

Cited By ~ 65

Author(s):

Markus Ries ◽

Ellen Schaefer ◽

Till Lührs ◽

Latha Mani ◽

Jana Kuhn ◽

...

Keyword(s):

Gaucher Disease ◽

Type A ◽

Laboratory Diagnosis ◽

Disease Type ◽

Critical Assessment ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Faculty Opinions recommendation of Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717597820.793453174 ◽

2012 ◽

Author(s):

Guadalupe Garcia-Tsao

Keyword(s):

Disease Type ◽

Acid Sphingomyelinase ◽

Type B ◽

Sphingomyelinase Deficiency ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Faculty Opinions recommendation of Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725350592.793542531 ◽

2018 ◽

Author(s):

Barbara Borroni

Keyword(s):

Laboratory Diagnosis ◽

Disease Type ◽

Niemann Pick Disease ◽

Type C ◽

Niemann Pick ◽

Pick Disease

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Niemann-Pick disease type A

10.32388/1qf9it ◽

2020 ◽

Author(s):

Keyword(s):

Type A ◽

Disease Type ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Replacement therapy for inherited enzyme deficiency: Liver orthotopic transplantation in Niemann-Pick disease type A

American Journal of Medical Genetics ◽

10.1002/ajmg.1320010209 ◽

1977 ◽

Vol 1 (2) ◽

pp. 229-239 ◽

Cited By ~ 46

Author(s):

Pierre Daloze ◽

Edgard E. Delvin ◽

Francis H. Glorieux ◽

Jacques L. Corman ◽

Paul Bettez ◽

...

Keyword(s):

Replacement Therapy ◽

Type A ◽

Disease Type ◽

Enzyme Deficiency ◽

Orthotopic Transplantation ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2020.100626 ◽

2020 ◽

Vol 24 ◽

pp. 100626

Author(s):

Beth L. Thurberg

Keyword(s):

Case Report ◽

Type A ◽

Disease Type ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Platform technology for treatment of the brain in lysosomal disorders: Application to Niemann-Pick disease type A

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2018.12.238 ◽

2019 ◽

Vol 126 (2) ◽

pp. S95-S96 ◽

Cited By ~ 1

Author(s):

Jeff Z. Lu ◽

Eric K.-W. Hui ◽

Huilan Lin ◽

Ruben J. Boado ◽

William M. Pardridge

Keyword(s):

Type A ◽

Disease Type ◽

Lysosomal Disorders ◽

Niemann Pick Disease ◽

Platform Technology ◽

Niemann Pick ◽

The Brain ◽

Pick Disease

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Biochemical and ultrastructural findings in a lymphoid cell line from Niemann-Pick disease type A

Biology of the Cell ◽

10.1111/j.1768-322x.1985.tb00416.x ◽

1985 ◽

Vol 55 (1-2) ◽

pp. 143-146 ◽

Cited By ~ 2

Author(s):

T. Levade ◽

R. Salvayre ◽

J. C. Bes ◽

A. Maret ◽

L. Douste-Blazy

Keyword(s):

Cell Line ◽

Lymphoid Cell ◽

Type A ◽

Disease Type ◽

Lymphoid Cell Line ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease ◽

Ultrastructural Findings

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Acid sphingomyelinase deficiency (Niemann‒Pick disease Type B) as an inflammatory disease

The Journal of Heart and Lung Transplantation ◽

10.1016/j.healun.2019.02.008 ◽

2019 ◽

Vol 38 (5) ◽

pp. 583-584 ◽

Cited By ~ 2

Author(s):

Olivier Lidove ◽

Wladimir Mauhin ◽

Jonathan London

Keyword(s):

Inflammatory Disease ◽

Disease Type ◽

Acid Sphingomyelinase ◽

Type B ◽

Sphingomyelinase Deficiency ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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Temporal bone histopathology of niemann-pick disease type A

American Journal of Otolaryngology ◽

10.1016/s0196-0709(97)90033-8 ◽

1997 ◽

Vol 18 (5) ◽

pp. 349-362

Author(s):

Edgar Bachor ◽

Erich Knop ◽

Collin S. Karmody ◽

Clarinda Northrop ◽

Alfonso Carranza ◽

...

Keyword(s):

Temporal Bone ◽

Type A ◽

Disease Type ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Pick Disease

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