Literature DB >> 1846223

An atypical variant of Fabry's disease with manifestations confined to the myocardium.

W von Scheidt1, C M Eng, T F Fitzmaurice, E Erdmann, G Hübner, E G Olsen, H Christomanou, R Kandolf, D F Bishop, R J Desnick.   

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Year:  1991        PMID： 1846223     DOI： 10.1056/NEJM199102073240607

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


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  93 in total

1.  Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Authors:  S Ishii; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

2.  Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Authors:  Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Toshika Okumiya; Hitoshi Sakuraba
Journal:  Hum Genet       Date:  2005-05-28       Impact factor: 4.132

3.  Rheumatologic aspects of lysosomal storage diseases.

Authors:  Bernhard Manger; Eugen Mengel; Roland M Schaefer
Journal:  Clin Rheumatol       Date:  2006-05-06       Impact factor: 2.980

Review 4.  Cardiac manifestations in Fabry disease.

Authors:  A Linhart; J C Lubanda; T Palecek; J Bultas; D Karetová; J Ledvinová; M Elleder; M Aschermann
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

5.  Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.

Authors:  Justina C Wu; Carolyn Y Ho; Hicham Skali; Rekha Abichandani; William R Wilcox; Maryam Banikazemi; Seymour Packman; Katherine Sims; Scott D Solomon
Journal:  Eur Heart J       Date:  2010-01-07       Impact factor: 29.983

6.  Leptomeningeal lipid storage patterns in Fabry disease.

Authors:  M Elleder; H Christomanou; B Kustermann-Kuhn; K Harzer
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

7.  Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.

Authors:  Marcella A Wozniak; Steven J Kittner; Stanley Tuhrim; John W Cole; Barney Stern; Mark Dobbins; Marie E Grace; Irina Nazarenko; Robert Dobrovolny; Eric McDade; Robert J Desnick
Journal:  Stroke       Date:  2009-12-10       Impact factor: 7.914

8.  The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

Authors:  Richie Khanna; Rebecca Soska; Yi Lun; Jessie Feng; Michelle Frascella; Brandy Young; Nastry Brignol; Lee Pellegrino; Sheela A Sitaraman; Robert J Desnick; Elfrida R Benjamin; David J Lockhart; Kenneth J Valenzano
Journal:  Mol Ther       Date:  2009-09-22       Impact factor: 11.454

9.  Intravascular ultrasound assessment of coronary artery involvement in Fabry disease.

Authors:  T Kovarnik; G S Mintz; D Karetova; J Horak; J Bultas; R Skulec; H Skalicka; M Aschermann; M Elleder; A Linhart
Journal:  J Inherit Metab Dis       Date:  2008-11-08       Impact factor: 4.982

10.  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
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