Literature DB >> 18925690

Rare diseases in Croatia--lesson learned from Anderson-Fabry disease.

Mirando Mrsić1, Marin Nola.   

Abstract

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Year:  2008        PMID： 18925690      PMCID： PMC2582349          DOI： 10.3325/cmj.2008.5.579

Source DB:  PubMed          Journal:  Croat Med J        ISSN： 0353-9504            Impact factor:   1.351


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  11 in total

Review 1.  The expanding clinical spectrum of Anderson-Fabry disease: a challenge to diagnosis in the novel era of enzyme replacement therapy.

Authors:  A C Hauser; M Lorenz; G Sunder-Plassmann
Journal:  J Intern Med       Date:  2004-06       Impact factor: 8.989

Review 2.  Prenatal diagnosis of Fabry disease.

Authors:  Robert J Desnick
Journal:  Prenat Diagn       Date:  2007-08       Impact factor: 3.050

3.  Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

Authors:  Sang H Shin; Stefanie Kluepfel-Stahl; Adele M Cooney; Christine R Kaneski; Jane M Quirk; Raphael Schiffmann; Roscoe O Brady; Gary J Murray
Journal:  Pharmacogenet Genomics       Date:  2008-09       Impact factor: 2.089

4.  [Classical type of Fabry disease without angiokeratomas--a case report].

Authors:  Boris Kudumija; Mirando Mrsić; Sonja Dits; Vesna Matijević; Sigmund Thune; Ksenija Bozina
Journal:  Lijec Vjesn       Date:  2007-12

Review 5.  Inborn errors of metabolism at the turn of the millennium.

Authors:  I Barić; K Fumić; G F Hoffmann
Journal:  Croat Med J       Date:  2001-08       Impact factor: 1.351

Review 6.  Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.

Authors:  E Schaefer; A Mehta; A Gal
Journal:  Acta Paediatr Suppl       Date:  2005-03

Review 7.  Agalsidase Beta: a review of its use in the management of Fabry disease.

Authors:  Gillian M Keating; Dene Simpson
Journal:  Drugs       Date:  2007       Impact factor: 9.546

8.  Management of Gaucher disease in a post-communist transitional health care system: Croatian experience.

Authors:  Mirando Mrsić; Ana Stavljenić-Rukavina; Ksenija Fumić; Boris Labar; Vinko Bogdanić; Kristina Potocki; Ika Kardum-Skelin; Diana Rovers
Journal:  Croat Med J       Date:  2003-10       Impact factor: 1.351

9.  Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa.

Authors:  D A Hughes; P M Elliott; J Shah; J Zuckerman; G Coghlan; J Brookes; A B Mehta
Journal:  Heart       Date:  2007-05-04       Impact factor: 5.994

10.  The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

Authors:  C Whybra; C Kampmann; F Krummenauer; M Ries; E Mengel; E Miebach; F Baehner; K Kim; M Bajbouj; A Schwarting; A Gal; M Beck
Journal:  Clin Genet       Date:  2004-04       Impact factor: 4.438
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  1 in total

Review 1.  A systematic review of moral reasons on orphan drug reimbursement.

Authors:  Bettina M Zimmermann; Johanna Eichinger; Matthias R Baumgartner
Journal:  Orphanet J Rare Dis       Date:  2021-06-30       Impact factor: 4.123
  1 in total

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