Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Marian A Kroos

Showing results (1-10 of 25) with videos related to

Pageof 3
Sort By:
Pediatrics|April 3, 2002
A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infectionMelle D Talsma, Marian A Kroos, Gepke Visser, et al.
Molecular Genetics and Metabolism|November 11, 2006
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type IIToshika Okumiya, Marian A Kroos, Laura Van Vliet, et al.
Journal of Human Genetics|April 4, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe diseaseKanako Sugawara, Seiji Saito, Masakazu Sekijima, et al.
Molecular Genetics and Metabolism|April 14, 2009
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationShingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, et al.
Journal of Inherited Metabolic Disease|April 10, 2014
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe diseaseCarin M van Gelder, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
European Journal of Pediatrics|October 10, 2002
Enzyme therapy for Pompe disease: from science to industrial enterpriseArnold J J Reuser, Hannerieke Van Den Hout, Agnes G A Bijvoet, et al.
Neuromuscular Disorders : NMD|May 18, 2004
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645AsnMarian A Kroos, Janbernd Kirschner, Frank N Gellerich, et al.
Molecular Genetics and Metabolism|February 16, 2011
Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spotsShohei Shigeto, Tatsuya Katafuchi, Yuya Okada, et al.
JIMD Reports|February 23, 2013
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseMónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, et al.
Developmental Medicine and Child Neurology|May 26, 2017
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotypeAudrey A M Vollebregt, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Pediatrics|April 3, 2002
A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infectionMelle D Talsma, Marian A Kroos, Gepke Visser, et al.
Molecular Genetics and Metabolism|November 11, 2006
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type IIToshika Okumiya, Marian A Kroos, Laura Van Vliet, et al.
Journal of Human Genetics|April 4, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe diseaseKanako Sugawara, Seiji Saito, Masakazu Sekijima, et al.
Molecular Genetics and Metabolism|April 14, 2009
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationShingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, et al.
Journal of Inherited Metabolic Disease|April 10, 2014
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe diseaseCarin M van Gelder, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
European Journal of Pediatrics|October 10, 2002
Enzyme therapy for Pompe disease: from science to industrial enterpriseArnold J J Reuser, Hannerieke Van Den Hout, Agnes G A Bijvoet, et al.
Neuromuscular Disorders : NMD|May 18, 2004
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645AsnMarian A Kroos, Janbernd Kirschner, Frank N Gellerich, et al.
Molecular Genetics and Metabolism|February 16, 2011
Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spotsShohei Shigeto, Tatsuya Katafuchi, Yuya Okada, et al.
JIMD Reports|February 23, 2013
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe DiseaseMónica Yasmín Niño, Heidi Eliana Mateus, Dora Janeth Fonseca, et al.
Developmental Medicine and Child Neurology|May 26, 2017
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotypeAudrey A M Vollebregt, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Pageof 3