FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Marian Kroos

Research Profile

Disorders

Glycogen Storage Disease Type II

Chemicals & Drugs

Anatomy

Physiology

Concepts & Ideas

Molecular Sequence Data

Living Beings

Procedures

DNA Mutational Analysis

Genes & Molecular Sequences

Alleles

Co-author Network

Publications

TOP 3
Stephan C A Wens; Mark G J M Wijgerde; Ans T Van Der Ploeg; Pieter A Van Doorn; Juna M de Vries; Marianne Hoogeveen-Westerveld; Marian A Kroos; Arnold J J Reuser
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Marian A Kroos; Marianne Hoogeveen-Westerveld; Ans T Van Der Ploeg; Arnold J J Reuser
The genotype-phenotype correlation in Pompe disease.
Nadine A M E van der Beek; Anneke J van der Kooi; Ans T Van Der Ploeg; Baziel G M van Engelen; Jan J G M Verschuuren; John H J Wokke; Marianne De Visser; Juna M de Vries; Karin G Faber; M L C Hagemans; Wim C J Hop; Marian A Kroos; Jan B M Kuks; Nicolette C Notermans; Arnold J J Reuser; Pieter A Van Doorn
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Marian Kroos (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2012: Stephan C A Wens; Mark G J M Wijgerde; Ans T Van Der Ploeg; Pieter A Van Doorn; Juna M de Vries; Marianne Hoogeveen-Westerveld; Marian A Kroos; Arnold J J Reuser
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Molecular genetics and metabolism 2012;107(3):485-9.
2012: Marian A Kroos; Marianne Hoogeveen-Westerveld; Ans T Van Der Ploeg; Arnold J J Reuser
The genotype-phenotype correlation in Pompe disease.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160(1):59-68.
2012: Nadine A M E van der Beek; Anneke J van der Kooi; Ans T Van Der Ploeg; Baziel G M van Engelen; Jan J G M Verschuuren; John H J Wokke; Marianne De Visser; Juna M de Vries; Karin G Faber; M L C Hagemans; Wim C J Hop; Marian A Kroos; Jan B M Kuks; Nicolette C Notermans; Arnold J J Reuser; Pieter A Van Doorn
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
Orphanet journal of rare diseases 2012;7():88.
2010: Juna M de Vries; Nadine A M E van der Beek; Marian A Kroos; Lale Ozkan; Pieter A Van Doorn; Susan M Richards; Crystal C C Sung; Jan-Dietert C Brugma; Adrienne A M Zandbergen; Ans T Van Der Ploeg; Arnold J J Reuser
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.
Molecular genetics and metabolism 2010;101(4):338-45.
2009: Otto P van Diggelen; L F Oemardien; N A M E van der Beek; Marian A Kroos; Henk Wind; Ya V Voznyi; Derek Burke; M Jackson; B G Winchester; Arnold J J Reuser
Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.
Journal of inherited metabolic disease 2009;32(3):416-23.
2008: N A M E van der Beek; Osama Soliman; C I van Capelle; Marcel L Geleijnse; Wim B Vletter; Marian A Kroos; Arnold J J Reuser; Ingrid M E Frohn-Mulder; Pieter A Van Doorn; Ans T Van Der Ploeg
Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
Journal of the neurological sciences 2008;275(1-2):46-50.
2008: Marian A Kroos; Reinier A Mullaart; Laura Van Vliet; Robert J Pomponio; Hernan Amartino; Edwin H Kolodny; Gregory M Pastores; Ron A Wevers; Ans T Van Der Ploeg; D J J Halley; Arnold J J Reuser
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
European journal of human genetics : EJHG 2008;16(8):875-9.
2008: Marian A Kroos; Robert J Pomponio; Laura van Vliet; Rachel E Palmer; Michael Phipps; Robert Van der Helm; D J J Halley; Arnold J J Reuser
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Human mutation 2008;29(6):E13-26.
2007: Susanne P Jongen; Gerrit J Gerwig; Bas Leeflang; Kate Koles; Maurice L M Mannesse; Patrick H C Van Berkel; Frank R Pieper; Marian A Kroos; Arnold J J Reuser; Qun Zhou; Xiaoying Jin; Kate Zhang; Tim Edmunds; Johannis P Kamerling
N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.
Glycobiology 2007;17(6):600-19.
2007: Marian A Kroos; Robert J Pomponio; M L C Hagemans; J L M Keulemans; M Phipps; M DeRiso; R E Palmer; Margreet G E M Ausems; N A M E Van der Beek; Otto P van Diggelen; D J J Halley; Ans T Van Der Ploeg; Arnold J J Reuser
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Neurology 2007;68(2):110-5.
2007: Toshika Okumiya; Marian A Kroos; Laura Van Vliet; Hiroaki Takeuchi; Ans T Van Der Ploeg; Arnold J J Reuser
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Molecular genetics and metabolism 2007;90(1):49-57.
2006: Marian A Kroos; P Manta; I Mavridou; F Muntoni; D J J Halley; R Van der Helm; D Zaifeiriou; Ans T Van Der Ploeg; Arnold J J Reuser; Helen Michelakakis
Seven cases of Pompe disease from Greece.
Journal of inherited metabolic disease 2006;29(4):556-63.
2006: Klaske D Lichtenbelt; Richard J Sinke; Margreet G E M Ausems; Marian A Kroos; Arnold J J Reuser; John J H Wokke
Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease).
Experimental and molecular pathology 2006;80(3):308-9; author reply 310.
2006: Toshika Okumiya; J L M Keulemans; Marian A Kroos; Nadine M E Van der Beek; Marijke A Boer; Hiroaki Takeuchi; Otto P van Diggelen; Arnold J J Reuser
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
Molecular genetics and metabolism 2006;88(1):22-8.
2004: Marian A Kroos; Janbernd Kirschner; Frank N Gellerich; Monique M P Hermans; Ans T Van Der Ploeg; Arnold J J Reuser; Rudolf Korinthenberg
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Neuromuscular disorders : NMD 2004;14(6):371-4.
2004: Johanna M P Van den Hout; Joep H J Kamphoven; Léon P F Winkel; W F M Arts; J B C de Klerk; M Christa B Loonen; Arnold G Vulto; Adri Cromme-Dijkhuis; Nynke Weisglas-Kuperus; Wim Hop; Hans Van Hirtum; Otto P van Diggelen; Marijke A Boer; Marian A Kroos; Pieter A Van Doorn; Edwin Van der Voort; Barbara Sibbles; Emiel J J M Van Corven; Just P J Brakenhoff; Johan L K Van Hove; Jan A M Smeitink; Gerard de Jong; Arnold J J Reuser; Ans T Van Der Ploeg
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Pediatrics 2004;113(5):e448-57.
2004: Monique M P Hermans; Dik van Leenen; Marian A Kroos; Clare E Beesley; Ans T Van Der Ploeg; Hitoshi Sakuraba; Ron Wevers; Wim J Kleijer; Helen Michelakakis; Edwin P Kirk; Janice Fletcher; Nils U Bosshard; Lina Basel-Vanagaite; G T N Besley; Arnold J J Reuser
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Human mutation 2004;23(1):47-56.
2002: Arnold J J Reuser; Hannerieke J M P Van Den Hout; Agnes G A Bijvoet; Marian A Kroos; Martin Ph Verbeet; Ans T Van Der Ploeg
Enzyme therapy for Pompe disease: from science to industrial enterprise.
European journal of pediatrics 2002;161 Suppl 1():S106-11.
2002: Melle D Talsma; Marian A Kroos; Gepke Visser; Jan L L Kimpen; Klary E Niezen
A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection.
Pediatrics 2002;109(4):e65.
2001: Margreet G E M Ausems; Klara ten Berg; Lodewijk A Sandkuijl; Marian A Kroos; Alfons F J Bardoel; K N Roumelioti; Arnold J J Reuser; Richard J Sinke; Cisca Wijmenga
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Journal of medical genetics 2001;38(8):527-9.
1999: Agnes G A Bijvoet; Hans Van Hirtum; Marian A Kroos; E H Van de Kamp; O Schoneveld; P Visser; J P Brakenhoff; M Weggeman; E J van Corven; Ans T Van Der Ploeg; Arnold J J Reuser
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Human molecular genetics 1999;8(12):2145-53.
1999: Margreet G E M Ausems; J Verbiest; M P Hermans; Marian A Kroos; Frits A Beemer; J H J Wokke; Lodewijk A Sandkuijl; Arnold J J Reuser; Ans T Van Der Ploeg
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
European journal of human genetics : EJHG 1999;7(6):713-6.
1999: Margreet G E M Ausems; Klara ten Berg; Marian A Kroos; Otto P van Diggelen; R A Wevers; B J H M Poorthuis; Klary E Niezen-Koning; Ans T Van Der Ploeg; Frits A Beemer; Arnold J J Reuser; Lodewijk A Sandkuijl; J H J Wokke
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.
Community genetics 1999;2(2-3):91-6.
1998: Agnes G A Bijvoet; Marian A Kroos; Frank R Pieper; M Van der Vliet; HA de Boer; Ans T Van Der Ploeg; Martin Ph Verbeet; Arnold J J Reuser
Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice.
Human molecular genetics 1998;7(11):1815-24.
1998: Marian A Kroos; Dik van Leenen; J Verbiest; Arnold J J Reuser; Monique M P Hermans
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
Clinical genetics 1998;53(5):379-82.
1998: Monique M P Hermans; Marian A Kroos; Jan A M Smeitink; Ans T Van Der Ploeg; Wim J Kleijer; Arnold J J Reuser
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Human mutation 1998;11(3):209-15.
1998: Agnes G A Bijvoet; E H van de Kamp; Marian A Kroos; J H Ding; Bing-zhi Yang; P Visser; Cathy E Bakker; Martin Ph Verbeet; Ben A Oostra; Arnold J J Reuser; Ans T Van Der Ploeg
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Human molecular genetics 1998;7(1):53-62.
1997: Monique M P Hermans; Dik van Leenen; Marian A Kroos; Arnold J J Reuser
Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.
Biochemical and biophysical research communications 1997;241(2):414-8.
1997: Marian A Kroos; A E Waitfield; Marijke Joosse; B Winchester; Arnold J J Reuser; K D MacDermot
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
Journal of inherited metabolic disease 1997;20(4):556-8.
1997: Arie B Vaandrager; Marcel Edixhoven; Alice G M Bot; Marian A Kroos; Thomas Jarchau; Suzanne M Lohmann; Hans-Gottfried Genieser; Hugo R de Jonge
Endogenous type II cGMP-dependent protein kinase exists as a dimer in membranes and can Be functionally distinguished from the type I isoforms.
The Journal of biological chemistry 1997;272(18):11816-23.
1997: Marian A Kroos; M Van der Kraan; Otto P van Diggelen; Wim J Kleijer; Arnold J J Reuser
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
Human mutation 1997;9(1):17-22.
1996: Agnes G A Bijvoet; Marian A Kroos; Frank R Pieper; HA de Boer; Arnold J J Reuser; Ans T Van Der Ploeg; Martin Ph Verbeet
Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice.
Biochimica et biophysica acta 1996;1308(2):93-6.
1996: Margreet G E M Ausems; Marian A Kroos; M Van der Kraan; Jan A M Smeitink; Wim J Kleijer; H K Ploos van Amstel; Arnold J J Reuser
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.
Clinical genetics 1996;49(6):325-8.
1996: J L M Keulemans; Arnold J J Reuser; Marian A Kroos; Rob Willemsen; Monique M P Hermans; Ans M W van den Ouweland; Jan G N de Jong; Ron A Wevers; W O Renier; D Schindler; M J Coll; A Chabas; H Sakuraba; Y Suzuki; Otto P van Diggelen
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Journal of medical genetics 1996;33(6):458-64.
1995: Marian A Kroos; M Van der Kraan; Otto P van Diggelen; Wim J Kleijer; Arnold J J Reuser; M J Van den Boogaard; Margreet G E M Ausems; H K Ploos van Amstel; Livia Poenaru; Marc Nicolino
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Journal of medical genetics 1995;32(10):836-7.
1995: J H J Wokke; Margreet G E M Ausems; M J van den Boogaard; E F Ippel; O van Diggelene; Marian A Kroos; M Boer; F G Jennekens; Arnold J J Reuser; H K Ploos van Amstel
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
Annals of neurology 1995;38(3):450-4.
1995: Rob Willemsen; J J Tibbe; Marian A Kroos; Brian M Martin; Arnold J J Reuser; E I Ginns
A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver.
The Histochemical journal 1995;27(8):639-46.
1995: Wim J Kleijer; M van der Kraan; Marian A Kroos; Johanna E M Groener; Otto P van Diggelen; Arnold J J Reuser; Ans T Van Der Ploeg
Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
Pediatric research 1995;38(1):103-6.
1995: Arnold J J Reuser; Otto P van Diggelen; Martin Ph Verbeet; Agnes G A Bijvoet; Monique M P Hermans; Wim J Kleijer; Marian A Kroos; Ans T Van Der Ploeg
Glycogenosis type II (acid maltase deficiency).
Muscle & nerve. Supplement 1995;(3):S61-9.
1995: Arnold J J Reuser; Marian A Kroos; Monique M P Hermans; Agnes G A Bijvoet; Martin Ph Verbeet; Otto P van Diggelen; Wim J Kleijer; Ans T Van Der Ploeg
Glycogenosis type II (acid maltase deficiency).
Muscle & nerve. Supplement 1995;3():S61-9.
1994: Monique M P Hermans; Esther de Graaff; Marian A Kroos; S Mohkamsing; B J Eussen; Marijke Joosse; Rob Willemsen; Wim J Kleijer; Ben A Oostra; Arnold J J Reuser
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
Human molecular genetics 1994;3(12):2213-8.
1994: M Van der Kraan; Marian A Kroos; Marijke Joosse; Agnes G A Bijvoet; Martin Ph Verbeet; Wim J Kleijer; Arnold J J Reuser
Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.
Biochemical and biophysical research communications 1994;203(3):1535-41.
1994: Arnold J J Reuser; Marian A Kroos; W J Visser; Rob Willemsen
Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy.
Annales de biologie clinique 1994;52(10):721-8.
1993: H A Wisselaar; Monique M P Hermans; W J Visser; Marian A Kroos; Ben A Oostra; W Aspden; B Harrison; D J Hetzel; Arnold J J Reuser; Roger Drinkwater
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical and biophysical research communications 1993;190(3):941-7.
1993: Monique M P Hermans; H A Wisselaar; Marian A Kroos; Ben A Oostra; Arnold J J Reuser
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
The Biochemical journal 1993;289 ( Pt 3)():681-6.
1993: Monique M P Hermans; Esther de Graaff; Marian A Kroos; H A Wisselaar; Rob Willemsen; Ben A Oostra; Arnold J J Reuser
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
The Biochemical journal 1993;289 ( Pt 3)():687-93.
1993: H A Wisselaar; Marian A Kroos; Monique M P Hermans; J van Beeumen; Arnold J J Reuser
Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.
The Journal of biological chemistry 1993;268(3):2223-31.
1993: Monique M P Hermans; Marian A Kroos; Esther de Graaff; Ben A Oostra; Arnold J J Reuser
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
Human mutation 1993;2(4):268-73.
1991: Monique M P Hermans; Esther de Graaff; Marian A Kroos; H A Wisselaar; Ben A Oostra; Arnold J J Reuser
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
Biochemical and biophysical research communications 1991;179(2):919-26.
1991: Monique M P Hermans; Marian A Kroos; J van Beeumen; Ben A Oostra; Arnold J J Reuser
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
The Journal of biological chemistry 1991;266(21):13507-12.
1991: Ans T Van Der Ploeg; Marian A Kroos; Rob Willemsen; nicolaas brons; Arnold J J Reuser
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
The Journal of clinical investigation 1991;87(2):513-8.
1990: Lies Hoefsloot; Rob Willemsen; Marian A Kroos; Marianne Hoogeveen-Westerveld; Monique M P Hermans; Ans T Van Der Ploeg; Ben A Oostra; Arnold J J Reuser
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.
The Biochemical journal 1990;272(2):485-92.
1990: Ans T Van Der Ploeg; A M van der Kraaij; Rob Willemsen; Marian A Kroos; M C Loonen; J F Koster; Arnold J J Reuser
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Pediatric research 1990;28(4):344-7.
1990: Lies Hoefsloot; Ans T Van Der Ploeg; Marian A Kroos; Marianne Hoogeveen-Westerveld; Ben A Oostra; Arnold J J Reuser
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
American journal of human genetics 1990;46(1):45-52.
1989: Ans T Van Der Ploeg; Marian A Kroos; Dallas M Swallow; Arnold J J Reuser
An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.
Annals of human genetics 1989;53(Pt 2):185-92.
1989: Dallas M Swallow; Marian A Kroos; Ans T Van Der Ploeg; B Griffiths; I Islam; C B Marenah; Arnold J J Reuser
An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele.
Annals of human genetics 1989;53(Pt 2):177-84.
1988: Lies Hoefsloot; Marianne Hoogeveen-Westerveld; Marian A Kroos; J van Beeumen; Arnold J J Reuser; Ben A Oostra
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
The EMBO journal 1988;7(6):1697-704.
1988: Rob Willemsen; Marian A Kroos; André Hoogeveen; J M van Dongen; G Parenti; C M van der Loos; Arnold J J Reuser
Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor.
The Histochemical journal 1988;20(1):41-51.
1987: G T van der Horst; Lies Hoefsloot; Marian A Kroos; Arnold J J Reuser
Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II.
Biochimica et biophysica acta 1987;910(2):123-9.
1987: Ans T Van Der Ploeg; Marian A Kroos; J M van Dongen; W J Visser; PA Bolhuis; M C Loonen; Arnold J J Reuser
Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid alpha-glucosidase.
Journal of the neurological sciences 1987;79(3):327-36.
1984: Arnold J J Reuser; Marian A Kroos; N J Ponne; R A Wolterman; M C Loonen; H F M Busch; W J Visser; PA Bolhuis
Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.
Experimental cell research 1984;155(1):178-89.