Literature DB >> 6023233

Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

R O Brady, A E Gal, R M Bradley, E Martensson, A L Warshaw, L Laster.   

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Year:  1967        PMID： 6023233     DOI： 10.1056/NEJM196705252762101

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


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  263 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.  Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of Fabry mice.

Authors:  Koji Higuchi; Makoto Yoshimitsu; Xin Fan; Xiaoxin Guo; Vanessa I Rasaiah; Jennifer Yen; Chuwa Tei; Toshihiro Takenaka; Jeffrey A Medin
Journal:  Mol Med       Date:  2010-02-17       Impact factor: 6.354

3.  Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.

Authors:  Eefje B Suntjens; Bouwien E Smid; Marieke Biegstraaten; Wouter A Dreschler; Carla E M Hollak; Gabor E Linthorst
Journal:  J Inherit Metab Dis       Date:  2014-11-14       Impact factor: 4.982

4.  Enzyme replacement therapy in an adolescent with Fabry disease.

Authors:  Sabine Illsinger; Thomas Luecke; Hendrik Langen; Anibh M Das
Journal:  Eur J Pediatr       Date:  2003-05-06       Impact factor: 3.183

5.  Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease.

Authors:  David F Moore; Frank Ye; Raphael Schiffmann; John A Butman
Journal:  AJNR Am J Neuroradiol       Date:  2003 Jun-Jul       Impact factor: 3.825

Review 6.  Fabry disease, enzyme replacement therapy and the significance of antibody responses.

Authors:  Patrick B Deegan
Journal:  J Inherit Metab Dis       Date:  2011-10-25       Impact factor: 4.982

7.  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

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

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

9.  [Lipoid chemical studies on angiokeratoma corporis diffusum (Fabry's syndrome)].

Authors:  K H Vogelberg; H G Solbach; F A Gries
Journal:  Klin Wochenschr       Date:  1969-09-01

10.  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
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