E. Schaefer

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C

F. Krummenauer, A. Gal, M. Vanier, 2006, Journal of Inherited Metabolic Disease.

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease

J. Kriegsmann, A. Schwarting, A. Gal, 2006, Pediatric Nephrology.

Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.

H. Neumann, S. Schandelmaier, E. Schaefer, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

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

A. Mehta, A. Gal, E. Schaefer, 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Pediatric Fabry Disease

J. Dambrosia, R. Schiffmann, R. Brady, 2005, Pediatrics.

Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease

A. Gal, E. Schaefer, C. Kampmann, 2008, Journal of Inherited Metabolic Disease.