Questioning the pathogenic role of the GLA p.Ala143Thr “Mutation” in fabry disease: Implications for screening studies and ERT

JIMD Reports

Volumn 8, Issue , 2013, Pages 101-108

  Terryn, W ^a,b   Vanholder, R ^b   Hemelsoet, D ^b   Leroy, B P ^b   Van Biesen, W ^b   De Schoenmakere, G ^c   Wuyts, B ^b   Claes, K ^b   De Backer, J ^b   De Paepe, G ^b   Fogo, A ^d   Praet, M ^b   Poppe, B ^b  

^a Jan Yperman Hospital   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c Heilig Hart Ziekenhuis   (Belgium)

^d VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Enzyme replacement therapy; Fabry disease; Kidney biopsy; Left ventricular hypertrophy; Lupus nephritis

Indexed keywords

EID: 84890861157     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_167     Document Type: Chapter

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