Literature DB >> 25770139

Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry.

Farideh Ghomashchi1, Mariana Barcenas1, Frantisek Turecek1, C Ronald Scott2, Michael H Gelb3.   

Abstract

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Year:  2015        PMID： 25770139      PMCID： PMC4733389          DOI： 10.1373/clinchem.2014.236448

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  3 in total

1.  Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Authors:  Yijun Li; C Ronald Scott; Nestor A Chamoles; Ahmad Ghavami; B Mario Pinto; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2004-08-03       Impact factor: 8.327

2.  A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

Authors:  O P van Diggelen; Ya V Voznyi; J L M Keulemans; K Schoonderwoerd; J Ledvinova; E Mengel; M Zschiesche; R Santer; K Harzer
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

3.  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.

Authors:  K Harzer; A Rolfs; P Bauer; M Zschiesche; E Mengel; J Backes; B Kustermann-Kuhn; G Bruchelt; O P van Diggelen; H Mayrhofer; I Krägeloh-Mann
Journal:  Neuropediatrics       Date:  2003-12       Impact factor: 1.947
  3 in total
  5 in total

Review 1.  Newborn screening for Krabbe's disease.

Authors:  Joseph J Orsini; Carlos A Saavedra-Matiz; Michael H Gelb; Michele Caggana
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

Review 2.  Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Authors:  Monique Piraud; Magali Pettazzoni; Pamela Lavoie; Séverine Ruet; Cécile Pagan; David Cheillan; Philippe Latour; Christine Vianey-Saban; Christiane Auray-Blais; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2018-03-19       Impact factor: 4.982

3.  Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.

Authors:  Peter C J I Schielen; Evelien A Kemper; Michael H Gelb
Journal:  Int J Neonatal Screen       Date:  2017-03-29

4.  Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.

Authors:  Ulrike Blümlein; Eugen Mengel; Yasmina Amraoui
Journal:  Mol Genet Metab Rep       Date:  2022-07-19

5.  A Robust Liposomal Platform for Direct Colorimetric Detection of Sphingomyelinase Enzyme and Inhibitors.

Authors:  Margaret N Holme; Subinoy Rana; Hanna M G Barriga; Ulrike Kauscher; Nicholas J Brooks; Molly M Stevens
Journal:  ACS Nano       Date:  2018-08-06       Impact factor: 15.881
  5 in total

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