Literature DB >> 22881192

Successful long-term enzyme replacement therapy in a young adult with Fabry disease.

C Kampmann, G Kalkum, M Beck, C Whybra.   

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Year:  2012        PMID： 22881192     DOI： 10.1111/j.1399-0004.2012.01916.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.

Authors:  Daniela Tavian; Sara Missaglia; Chiara Redaelli; Elena M Pennisi; Gloria Invernici; Ruediger Wessalowski; Robert Maiwald; Marcello Arca; Rosalind A Coleman
Journal:  Hum Mol Genet       Date:  2012-09-17       Impact factor: 6.150

2.  Acroparesthesia in a female: diagnostic dilemma.

Authors:  Fnu Kelash; Lara Kujtan; Padmaja V Mallidi
Journal:  Case Rep Med       Date:  2014-11-02

3.  FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

Authors:  Daniela Tavian; Sara Missaglia; Paolo E Maltese; Sandro Michelini; Alessandro Fiorentino; Maurizio Ricci; Roberta Serrani; Michael A Walter; Matteo Bertelli
Journal:  Oncotarget       Date:  2016-08-23

Review 4.  The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Authors:  Dominique P Germain; Perry M Elliott; Bruno Falissard; Victor V Fomin; Max J Hilz; Ana Jovanovic; Ilkka Kantola; Aleš Linhart; Renzo Mignani; Mehdi Namdar; Albina Nowak; João-Paulo Oliveira; Maurizio Pieroni; Miguel Viana-Baptista; Christoph Wanner; Marco Spada
Journal:  Mol Genet Metab Rep       Date:  2019-02-06
  4 in total

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