Search filters

List of works by Joan Keutzer

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

scientific article published on 2 June 2008

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

scientific article published on 06 September 2010

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

scientific article published on 28 December 2009

Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.

scientific article published on 28 August 2017

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

scientific article published on 22 March 2010

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

scientific article

Paulina is supported by:

About Paulina

Help