Marian A. Kroos
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 17 publications
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
Journal: PloS one
Published: September 12, 2018
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Journal: Human mutation
Published: September 07, 2018
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Journal: European journal of human genetics : EJHG
Published: June 20, 2018
Response to Herbert et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 30, 2017
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Journal: Developmental medicine and child neurology
Published: March 21, 2017
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
Journal: Orphanet journal of rare diseases
Published: March 03, 2016
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 20, 2016
Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
Journal: Journal of inherited metabolic disease
Published: November 15, 2013
Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
Journal: Gene
Published: August 06, 2013
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Journal: Orphanet journal of rare diseases
Published: January 03, 2013
Last Updated: 09/26/2026