Literature DB >> 9266408

Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency.

H Pavlů1, M Elleder.   

Abstract

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Year:  1997        PMID： 9266408     DOI： 10.1023/a:1005387932546

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  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

2.  Newborn screening for lysosomal storage disorders in hungary.

Authors:  Judit Wittmann; Eszter Karg; Sàndor Turi; Elisa Legnini; Gyula Wittmann; Anne-Katrin Giese; Jan Lukas; Uta Gölnitz; Michael Klingenhäger; Olaf Bodamer; Adolf Mühl; Arndt Rolfs
Journal:  JIMD Rep       Date:  2012-03-21

Review 3.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

4.  Identification and biochemical characterization of an acid sphingomyelinase-like protein from the bacterial plant pathogen Ralstonia solanacearum that hydrolyzes ATP to AMP but not sphingomyelin to ceramide.

Authors:  Michael V Airola; Jessica M Tumolo; Justin Snider; Yusuf A Hannun
Journal:  PLoS One       Date:  2014-08-21       Impact factor: 3.240
  4 in total

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