Literature DB >> 4196713

Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.

R O Brady, J F Tallman, W G Johnson, A E Gal, W R Leahy, J M Quirk, A S Dekaban.   

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Year:  1973        PMID： 4196713     DOI： 10.1056/NEJM197307052890103

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  52 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Anderson-Fabry disease in Austria.

Authors:  Matthias Lorenz; Anna-Christina Hauser; Margot Püspök-Schwarz; Peter Kotanko; Ingrid Arias; Herbert Zodl; Reinhard Kramar; Eduard Paschke; Till Voigtländer; Gere Sunder-Plassmann
Journal:  Wien Klin Wochenschr       Date:  2003-04-30       Impact factor: 1.704

3.  Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes.

Authors:  R J Desnick; K J Dean; G Grabowski; D F Bishop; C C Sweeley
Journal:  Proc Natl Acad Sci U S A       Date:  1979-10       Impact factor: 11.205

4.  Benefits from unearthing "a biochemical Rosetta Stone".

Authors:  Roscoe O Brady
Journal:  J Biol Chem       Date:  2010-10-28       Impact factor: 5.157

Review 5.  Treatment of lysosomal storage disorders : progress with enzyme replacement therapy.

Authors:  Marianne Rohrbach; Joe T R Clarke
Journal:  Drugs       Date:  2007       Impact factor: 9.546

6.  Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

Authors:  J P Oliveira; S Ferreira; J Barceló; P Gaspar; F Carvalho; M C Sá Miranda; J-E Månsson
Journal:  J Inherit Metab Dis       Date:  2008-11-03       Impact factor: 4.982

7.  Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease).

Authors:  G F Nelis; G J Jacobs
Journal:  Dig Dis Sci       Date:  1989-11       Impact factor: 3.199

Review 8.  Enzyme replacement therapy of Fabry disease.

Authors:  Joe T R Clarke; R Mark Iwanochko
Journal:  Mol Neurobiol       Date:  2005-08       Impact factor: 5.590

9.  Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.

Authors:  Y A Ioannou; K M Zeidner; M E Grace; R J Desnick
Journal:  Biochem J       Date:  1998-06-15       Impact factor: 3.857

10.  Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Authors:  Johannes M Aerts; Johanna E Groener; Sijmen Kuiper; Wilma E Donker-Koopman; Anneke Strijland; Roelof Ottenhoff; Cindy van Roomen; Mina Mirzaian; Frits A Wijburg; Gabor E Linthorst; Anouk C Vedder; Saskia M Rombach; Josanne Cox-Brinkman; Pentti Somerharju; Rolf G Boot; Carla E Hollak; Roscoe O Brady; Ben J Poorthuis
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-19       Impact factor: 11.205
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