Seyfullah Gokce
Mainz, RP 55131, Germany
Last Updated: 09/26/2026
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Found 9 publications
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.
Journal: Molecular genetics and metabolism
Published: January 11, 2020
Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.
Journal: JIMD reports
Published: February 20, 2019
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 19, 2017
Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients.
Journal: European journal of radiology
Published: January 01, 2017
Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.
Journal: Journal of inherited metabolic disease
Published: June 27, 2016
Motor Development in Infantile Pompe Disease.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Journal: Orphanet journal of rare diseases
Published: January 31, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026