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Arnold Reuser

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Disorders

Glycogen Storage Disease Type II

Chemicals & Drugs

Anatomy

Physiology

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Publications

TOP 3
Kumamoto Shingo; Katafuchi Tatsuya; Nakamura Kimitoshi; Endo Fumio; Oda Eri; Okuyama Torayuki; Kroos Marian A; Reuser Arnold J J; Okumiya Toshika
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
van Diggelen O P; Oemardien L F; van der Beek N A M E; Kroos M A; Wind H K; Voznyi Y V; Burke D; Jackson M; Winchester B G; Reuser A J J
Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.
Sugawara Kanako; Saito Seiji; Sekijima Masakazu; Ohno Kazuki; Tajima Youichi; Kroos Marian A; Reuser Arnold J J; Sakuraba Hitoshi
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

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All Publications

2009: Kumamoto Shingo; Katafuchi Tatsuya; Nakamura Kimitoshi; Endo Fumio; Oda Eri; Okuyama Torayuki; Kroos Marian A; Reuser Arnold J J; Okumiya Toshika
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
Molecular genetics and metabolism 2009;97(3):190-5.
2009: van Diggelen O P; Oemardien L F; van der Beek N A M E; Kroos M A; Wind H K; Voznyi Y V; Burke D; Jackson M; Winchester B G; Reuser A J J
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.
2009: Sugawara Kanako; Saito Seiji; Sekijima Masakazu; Ohno Kazuki; Tajima Youichi; Kroos Marian A; Reuser Arnold J J; Sakuraba Hitoshi
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Journal of human genetics 2009;54(6):324-30.
2009: Van der Beek N A M E; Hagemans M L C; Reuser A J J; Hop W C J; Van der Ploeg A T; Van Doorn P A; Wokke J H J
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.
Neuromuscular disorders : NMD 2009;19(2):113-7.
2008: van der Beek N A M E; Soliman O I I; van Capelle C I; Geleijnse M L; Vletter W B; Kroos M A; Reuser A J J; Frohn-Mulder I M E; van Doorn P A; van der Ploeg A T
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: van der Ploeg Ans T; Reuser Arnold J J
Pompe's disease.
Lancet 2008;372(9646):1342-53.
2008: Kroos Marian A; Mullaart Reinier A; Van Vliet Laura; Pomponio Robert J; Amartino Hernan; Kolodny Edwin H; Pastores Gregory M; Wevers Ron A; Van der Ploeg Ans T; Halley Dicky J J; Reuser Arnold J J
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
European journal of human genetics : EJHG 2008;16(8):875-9.
2008: van Capelle C I; Winkel L P F; Hagemans M L C; Shapira S K; Arts W F M; van Doorn P A; Hop W C J; Reuser A J J; van der Ploeg A T
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease.
Neuromuscular disorders : NMD 2008;18(6):447-52.
2008: Kroos Marian; Pomponio Robert J; van Vliet Laura; Palmer Rachel E; Phipps Michael; Van der Helm Robert; Halley Dicky; Reuser Arnold;
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Human mutation 2008;29(6):E13-26.
2008: Drost Maarten R; Schaart Gert; van Dijk Paul; van Capelle Carine I; van der Vusse Ger J; Delhaas Tammo; van der Ploeg Ans T; Reuser Arnold J J
Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.
Muscle & nerve 2008;37(2):251-5.
2007: Hagemans M L C; Laforêt P; Hop W J C; Merkies I S J; Van Doorn P A; Reuser A J J; Van der Ploeg A T
Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale.
Neuromuscular disorders : NMD 2007;17(7):537-43.
2007: Hagemans Marloes L C; van Schie Sabine P M; Janssens A Cecile J W; van Doorn Pieter A; Reuser Arnold J J; van der Ploeg Ans T
Fatigue: an important feature of late-onset Pompe disease.
Journal of neurology 2007;254(7):941-5.
2007: Jongen Susanne P; Gerwig Gerrit J; Leeflang Bas R; Koles Kate; Mannesse Maurice L M; van Berkel Patrick H C; Pieper Frank R; Kroos Marian A; Reuser Arnold J J; Zhou Qun; Jin Xiaoying; Zhang Kate; Edmunds Tim; Kamerling Johannis P
N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.
Glycobiology 2007;17(6):600-19.
2007: Kroos M A; Pomponio R J; Hagemans M L; Keulemans J L M; Phipps M; DeRiso M; Palmer R E; Ausems M G E M; Van der Beek N A M E; Van Diggelen O P; Halley D J J; Van der Ploeg A T; Reuser A J J
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Neurology 2007;68(2):110-5.
2007: Okumiya Toshika; Kroos Marian A; Vliet Laura Van; Takeuchi Hiroaki; Van der Ploeg Ans T; Reuser Arnold J J
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: Kroos M; Manta P; Mavridou I; Muntoni F; Halley D; Van der Helm R; Zaifeiriou D; Van der Ploeg A; Reuser A; Michelakakis H
Seven cases of Pompe disease from Greece.
Journal of inherited metabolic disease 2006;29(4):556-63.
2006: van der Beek N A M E; Hagemans M L C; van der Ploeg A T; Reuser A J J; van Doorn P A
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Acta neurologica Belgica 2006;106(2):82-6.
2006: Lichtenbelt Klaske D; Sinke Richard J; Ausems Margreet G E M; Kroos Marian A; Reuser Arnold J J; Wokke John J H
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: Okumiya Toshika; Keulemans Joke L M; Kroos Marian A; Van der Beek Nadine M E; Boer Marijke A; Takeuchi Hiroaki; Van Diggelen Otto P; Reuser Arnold J J
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
Molecular genetics and metabolism 2006;88(1):22-8.
2006: Reuser Arnold J J; Drost Maarten R
Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principles.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2006;95(451):77-82.
2006: Hagemans M L C; Hop W J C; Van Doorn P A; Reuser A J J; Van der Ploeg A T
Course of disability and respiratory function in untreated late-onset Pompe disease.
Neurology 2006;66(4):581-3.
2005: Winkel Léon P F; Hagemans Marloes L C; van Doorn Pieter A; Loonen M Christa B; Hop Wim J C; Reuser Arnold J J; van der Ploeg Ans T
The natural course of non-classic Pompe's disease; a review of 225 published cases.
Journal of neurology 2005;252(8):875-84.
2005: Hagemans M L C; Winkel L P F; Hop W C J; Reuser A J J; Van Doorn P A; Van der Ploeg A T
Disease severity in children and adults with Pompe disease related to age and disease duration.
Neurology 2005;64(12):2139-41.
2005: Hagemans M L C; Winkel L P F; Van Doorn P A; Hop W J C; Loonen M C B; Reuser A J J; Van der Ploeg A T
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.
Brain : a journal of neurology 2005;128(Pt 3):671-7.
2004: Hagemans M L C; Janssens A C J W; Winkel L P F; Sieradzan K A; Reuser A J J; Van Doorn P A; Van der Ploeg A T
Late-onset Pompe disease primarily affects quality of life in physical health domains.
Neurology 2004;63(9):1688-92.
2004: Kamphoven Joep H J; de Ruiter Martijn M; Winkel Leon P F; Van den Hout Hannerieke M P; Bijman Jan; De Zeeuw Chris I; Hoeve Hans L; Van Zanten Bert A; Van der Ploeg Ans T; Reuser Arnold J J
Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse.
Neurobiology of disease 2004;16(1):14-20.
2004: Kroos Marian A; Kirschner Janbernd; Gellerich Frank N; Hermans Monique M P; Van Der Ploeg Ans T; Reuser Arnold J J; Korinthenberg Rudolf
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Neuromuscular disorders : NMD 2004;14(6):371-4.
2004: Van den Hout Johanna M P; Kamphoven Joep H J; Winkel Léon P F; Arts Willem F M; De Klerk Johannes B C; Loonen M Christa B; Vulto Arnold G; Cromme-Dijkhuis Adri; Weisglas-Kuperus Nynke; Hop Wim; Van Hirtum Hans; Van Diggelen Otto P; Boer Marijke; Kroos Marian A; Van Doorn Pieter A; Van der Voort Edwin; Sibbles Barbara; Van Corven Emiel J J M; Brakenhoff Just P J; Van Hove Johan; Smeitink Jan A M; de Jong Gerard; Reuser Arnold J J; Van der Ploeg Ans T
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Pediatrics 2004;113(5):e448-57.
2004: Winkel Léon P F; Van den Hout Johanna M P; Kamphoven Joep H J; Disseldorp Janus A M; Remmerswaal Maaike; Arts Willem F M; Loonen M Christa B; Vulto Arnold G; Van Doorn Pieter A; De Jong Gerard; Hop Wim; Smit G Peter A; Shapira Stuart K; Boer Marijke A; van Diggelen Otto P; Reuser Arnold J J; Van der Ploeg Ans T
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.
Annals of neurology 2004;55(4):495-502.
2004: Hermans Monique M P; van Leenen Dik; Kroos Marian A; Beesley Clare E; Van Der Ploeg Ans T; Sakuraba Hitoshi; Wevers Ron; Kleijer Wim; Michelakakis Helen; Kirk Edwin P; Fletcher Janice; Bosshard Nils; Basel-Vanagaite Lina; Besley Guy; Reuser Arnold J J
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.
2003: van den Hout Hannerieke M P; Hop Wim; van Diggelen Otto P; Smeitink Jan A M; Smit G Peter A; Poll-The Bwee-Tien T; Bakker Henk D; Loonen M Christa B; de Klerk Johannis B C; Reuser Arnold J J; van der Ploeg Ans T
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
Pediatrics 2003;112(2):332-40.
2003: Winkel Léon P F; Kamphoven Joep H J; van den Hout Hannerieke J M P; Severijnen Lies A; van Doorn Pieter A; Reuser Arnold J J; van der Ploeg Ans T
Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.
Muscle & nerve 2003;27(6):743-51.
2002: Reuser Arnold J J; Van Den Hout Hannerieke; Bijvoet Agnes G A; Kroos Marian A; Verbeet Martin P; Van Der Ploeg Ans T
Enzyme therapy for Pompe disease: from science to industrial enterprise.
European journal of pediatrics 2002;161 Suppl 1():S106-11.
2002: Nellist Mark; Goedbloed Miriam A; de Winter Christa; Verhaaf Brenda; Jankie Anita; Reuser Arnold J J; van den Ouweland Ans M W; van der Sluijs Peter; Halley Dicky J J
Identification and characterization of the interaction between tuberin and 14-3-3zeta.
The Journal of biological chemistry 2002;277(42):39417-24.
2002: Bodamer Olaf A; Haas Dorothea; Hermans Monique M; Reuser Arnold J; Hoffmann Georg F
L-alanine supplementation in late infantile glycogen storage disease type II.
Pediatric neurology 2002;27(2):145-6.
2002: Hesselink Reinout P; Gorselink Marchel; Schaart Gert; Wagenmakers Anton J M; Kamphoven Joep; Reuser Arnold J J; Van Der Vusse Ger J; Drost Maarten R
Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.
Muscle & nerve 2002;25(6):873-83.
2001: Nellist M; Verhaaf B; Goedbloed M A; Reuser A J; van den Ouweland A M; Halley D J
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
Human molecular genetics 2001;10(25):2889-98.
2001: Goedbloed M A; Nellist M; Verhaaf B; Reuser A J; Lindhout D; Sunde L; Verhoef S; Halley D J; van den Ouweland A M
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
European journal of human genetics : EJHG 2001;9(11):823-8.
2001: Ausems M G; Wokke J H; Reuser A J; van Diggelen O P
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Neurology 2001;57(10):1938.
2001: Ausems M G; ten Berg K; Sandkuijl L A; Kroos M A; Bardoel A F; Roumelioti K N; Reuser A J; Sinke R; Wijmenga C
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.
2001: Van den Hout J M; Reuser A J; de Klerk J B; Arts W F; Smeitink J A; Van der Ploeg A T
Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.
Journal of inherited metabolic disease 2001;24(2):266-74.
2001: Kamphoven J H; Stubenitsky R; Reuser A J; Van Der Ploeg A T; Verdouw P D; Duncker D J
Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice.
Physiological genomics 2001;5(4):171-9.
2000: Van den Hout H; Reuser A J; Vulto A G; Loonen M C; Cromme-Dijkhuis A; Van der Ploeg A T
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.
Lancet 2000;356(9227):397-8.
1999: Bijvoet A G; Van Hirtum H; Vermey M; Van Leenen D; Van Der Ploeg A T; Mooi W J; Reuser A J
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model.
The Journal of pathology 1999;189(3):416-24.
1999: Bijvoet A G; Van Hirtum H; Kroos M A; Van de Kamp E H; Schoneveld O; Visser P; Brakenhoff J P; Weggeman M; van Corven E J; Van der Ploeg A T; Reuser A J
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: Ausems M G; Verbiest J; Hermans M P; Kroos M A; Beemer F A; Wokke J H; Sandkuijl L A; Reuser A J; van der Ploeg A T
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: Ausems M G; Lochman P; van Diggelen O P; Ploos van Amstel H K; Reuser A J; Wokke J H
A diagnostic protocol for adult-onset glycogen storage disease type II.
Neurology 1999;52(4):851-3.
1999: Ausems M G; ten Berg K; Kroos M A; van Diggelen O P; Wevers R A; Poorthuis B J; Niezen-Koning K E; van der Ploeg A T; Beemer F A; Reuser A J; Sandkuijl L A; Wokke J H
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.
Community genetics 1999;2(2-3):91-6.
1998: Bijvoet A G; Kroos M A; Pieper F R; Van der Vliet M; De Boer H A; Van der Ploeg A T; Verbeet M P; Reuser A J
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: van Slegtenhorst M; Nellist M; Nagelkerken B; Cheadle J; Snell R; van den Ouweland A; Reuser A; Sampson J; Halley D; van der Sluijs P
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
Human molecular genetics 1998;7(6):1053-7.
1998: Kroos M A; van Leenen D; Verbiest J; Reuser A J; Hermans M M
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: Becker J A; Vlach J; Raben N; Nagaraju K; Adams E M; Hermans M M; Reuser A J; Brooks S S; Tifft C J; Hirschhorn R; Huie M L; Nicolino M; Plotz P H
The African origin of the common mutation in African American patients with glycogen-storage disease type II.
American journal of human genetics 1998;62(4):991-4.
1998: Bijvoet A G; van de Kamp E H; Kroos M A; Ding J H; Yang B Z; Visser P; Bakker C E; Verbeet M P; Oostra B A; Reuser A J; van der Ploeg A T
Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.
Human molecular genetics 1998;7(1):53-62.
1998: Hermans M M; Kroos M A; Smeitink J A; van der Ploeg A T; Kleijer W J; Reuser A J
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.
1997: Hermans M M; van Leenen D; Kroos M A; Reuser A J
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: Kroos M A; Waitfield A E; Joosse M; Winchester B; Reuser A J; MacDermot K D
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: Kroos M A; Van der Kraan M; Van Diggelen O P; Kleijer W J; Reuser A J
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: van Diggelen O P; Zaremba J; He W; Keulemans J L; Boer A M; Reuser A J; Ausems M G; Smeitink J A; Kowalczyk J; Pronicka E; Rokicki D; Tarnowska-Dziduszko E; Kneppers A L; Bakker E
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation.
Clinical genetics 1996;50(5):310-6.
1996: Bijvoet A G; Kroos M A; Pieper F R; de Boer H A; Reuser A J; van der Ploeg A T; Verbeet M P
Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice.
Biochimica et biophysica acta 1996;1308(2):93-6.
1996: Ausems M G; Kroos M A; Van der Kraan M; Smeitink J A; Kleijer W J; Ploos van Amstel H K; Reuser A J
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: Keulemans J L; Reuser A J; Kroos M A; Willemsen R; Hermans M M; van den Ouweland A M; de Jong J G; Wevers R A; Renier W O; Schindler D; Coll M J; Chabas A; Sakuraba H; Suzuki Y; van Diggelen O P
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: Fuller M; Van der Ploeg A; Reuser A J; Anson D S; Hopwood J J
Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.
European journal of biochemistry / FEBS 1995;234(3):903-9.
1995: Kroos M A; Van der Kraan M; Van Diggelen O P; Kleijer W J; Reuser A J; Van den Boogaard M J; Ausems M G; Ploos van Amstel H K; Poenaru L; Nicolino M
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: Wokke J H; Ausems M G; van den Boogaard M J; Ippel E F; van Diggelene O; Kroos M A; Boer M; Jennekens F G; Reuser A J; Ploos van Amstel H K
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
Annals of neurology 1995;38(3):450-4.
1995: Willemsen R; Tibbe J J; Kroos M A; Martin B M; Reuser A J; Ginns E I
A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver.
The Histochemical journal 1995;27(8):639-46.
1995: Kleijer W J; van der Kraan M; Kroos M A; Groener J E; van Diggelen O P; Reuser A J; van der Ploeg A T
Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
Pediatric research 1995;38(1):103-6.
1995: Verheij C; de Graaff E; Bakker C E; Willemsen R; Willems P J; Meijer N; Galjaard H; Reuser A J; Oostra B A; Hoogeveen A T
Characterization of FMR1 proteins isolated from different tissues.
Human molecular genetics 1995;4(5):895-901.
1995: Willemsen R; Tybulewicz V; Sidransky E; Eliason W K; Martin B M; LaMarca M E; Reuser A J; Tremblay M; Westphal H; Mulligan R C
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.
Molecular and chemical neuropathology / sponsored by the International Society for Neurochemistry and the World Federation of Neurology and research groups on neurochemistry and cerebrospinal fluid 1995;24(2-3):179-92.
1995: Reuser A J; Kroos M A; Hermans M M; Bijvoet A G; Verbeet M P; Van Diggelen O P; Kleijer W J; Van der Ploeg A T
Glycogenosis type II (acid maltase deficiency).
Muscle & nerve 1995;3():S61-9.
1994: Hermans M M; De Graaff E; Kroos M A; Mohkamsing S; Eussen B J; Joosse M; Willemsen R; Kleijer W J; Oostra B A; Reuser A J
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: Van der Kraan M; Kroos M A; Joosse M; Bijvoet A G; Verbeet M P; Kleijer W J; Reuser A J
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: Reuser A J; Wisselaar H A
An evaluation of the potential side-effects of alpha-glucosidase inhibitors used for the management of diabetes mellitus.
European journal of clinical investigation 1994;24 Suppl 3():19-24.
1994: Reuser A J; Kroos M A; Visser W J; Willemsen R
Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy.
Annales de biologie clinique 1994;52(10):721-8.
1993: Willemsen R; van der Ploeg A T; Busch H F; Zondervan P E; Van Noorden C J; Reuser A J
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II.
Ultrastructural pathology 1993;17(5):515-27.
1993: Verheij C; Bakker C E; de Graaff E; Keulemans J; Willemsen R; Verkerk A J; Galjaard H; Reuser A J; Hoogeveen A T; Oostra B A
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.
Nature 1993;363(6431):722-4.
1993: Hermans M M; Svetkey L P; Oostra B A; Chen Y T; Reuser A J
The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.
Genomics 1993;16(1):300-1.
1993: Wisselaar H A; Hermans M M; Visser W J; Kroos M A; Oostra B A; Aspden W; Harrison B; Hetzel D J; Reuser A J; Drinkwater R D
Biochemical genetics of glycogenosis type II in Brahman cattle.
Biochemical and biophysical research communications 1993;190(3):941-7.
1993: Hermans M M; Wisselaar H A; Kroos M A; Oostra B A; Reuser A J
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
The Biochemical journal 1993;289 ( Pt 3)():681-6.
1993: Hermans M M; de Graaff E; Kroos M A; Wisselaar H A; Willemsen R; Oostra B A; Reuser A J
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: Wisselaar H A; Kroos M A; Hermans M M; van Beeumen J; Reuser A J
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: Hermans M M; Kroos M A; de Graaff E; Oostra B A; Reuser A J
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: Willemsen R; Brünken R; Sorber C W; Hoogeveen A T; Wisselaar H A; Van Dongen J M; Reuser A J
A quantitative immunoelectronmicroscopic study on soluble, membrane-associated and membrane-bound lysosomal enzymes in human intestinal epithelial cells.
The Histochemical journal 1991;23(10):467-73.
1991: Hermans M M; de Graaff E; Kroos M A; Wisselaar H A; Oostra B A; Reuser A J
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: Hermans M M; Kroos M A; van Beeumen J; Oostra B A; Reuser A J
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
The Journal of biological chemistry 1991;266(21):13507-12.
1991: Hu P; Reuser A J; Janse H C; Kleijer W J; Schindler D; Sakuraba H; Tsuji A; Suzuki Y; van Diggelen O P
Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.
Biochemical and biophysical research communications 1991;175(3):1097-103.
1991: Van der Ploeg A T; Kroos M A; Willemsen R; Brons N H; Reuser A J
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.
1991: Hoefsloot L H; Hoogeveen-Westerveld M; Oostra B A; Reuser A J
An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA).
Nucleic acids research 1991;19(3):682.
1990: Hoefsloot L H; Hoogeveen-Westerveld M; Reuser A J; Oostra B A
Characterization of the human lysosomal alpha-glucosidase gene.
The Biochemical journal 1990;272(2):493-7.
1990: Hoefsloot L H; Willemsen R; Kroos M A; Hoogeveen-Westerveld M; Hermans M M; Van der Ploeg A T; Oostra B A; Reuser A J
Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.
The Biochemical journal 1990;272(2):485-92.
1990: van der Ploeg A T; van der Kraaij A M; Willemsen R; Kroos M A; Loonen M C; Koster J F; Reuser A J
Rat heart perfusion as model system for enzyme replacement therapy in glycogenosis type II.
Pediatric research 1990;28(4):344-7.
1990: Hoefsloot L H; Hoogeveen-Westerveld M; Sakuraba H; Suzuki Y; Oostra B A; Reuser A J
HindIII/EcoRI polymorphism in the GAA gene.
Nucleic acids research 1990;18(19):5921.
1990: Hoefsloot L H; van der Ploeg A T; Kroos M A; Hoogeveen-Westerveld M; Oostra B A; Reuser A J
Adult and infantile glycogenosis type II in one family, explained by allelic diversity.
American journal of human genetics 1990;46(1):45-52.
1989: Van der Ploeg A T; Hoefsloot L H; Hoogeveen-Westerveld M; Petersen E M; Reuser A J
Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.
American journal of human genetics 1989;44(6):787-93.
1989: Wisselaar H A; van Dongen J M; Reuser A J
Effects of N-hydroxyethyl-1-deoxynojirimycin (BAY m 1099) on the activity of neutral- and acid alpha-glucosidases in human fibroblasts and HepG2 cells.
Clinica chimica acta; international journal of clinical chemistry 1989;182(1):41-52.
1989: Van der Ploeg A T; Kroos M A; Swallow D M; Reuser A J
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: Swallow D M; Kroos M; Van der Ploeg A T; Griffiths B; Islam I; Marenah C B; Reuser A J
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.
1989: van Pelt J; Hård K; Kamerling J P; Vliegenthart J F; Reuser A J; Galjaard H
Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine. An intact N,N'-diacetylchitobiose unit at the reducing end of a diantennary structure.
Biological chemistry Hoppe-Seyler 1989;370(3):191-203.
1988: Willemsen R; van Dongen J M; Aerts J M; Schram A W; Tager J M; Goudsmit R; Reuser A J
An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen.
Ultrastructural pathology 1988;12(5):471-8.
1988: van der Ploeg A T; Bolhuis P A; Wolterman R A; Visser J W; Loonen M C; Busch H F; Reuser A J
Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells.
Journal of neurology 1988;235(7):392-6.
1988: Van der Ploeg A T; Loonen M C; Bolhuis P A; Busch H M; Reuser A J; Galjaard H
Receptor-mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle.
Pediatric research 1988;24(1):90-4.
1988: Hoefsloot L H; Hoogeveen-Westerveld M; Kroos M A; van Beeumen J; Reuser A J; Oostra B A
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
The EMBO journal 1988;7(6):1697-704.
1988: Willemsen R; Kroos M; Hoogeveen A T; van Dongen J M; Parenti G; van der Loos C M; Reuser A J
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: van der Horst G T; Hoefsloot E H; Kroos M A; Reuser A J
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: van der Ploeg A T; Kroos M; van Dongen J M; Visser W J; Bolhuis P A; Loonen M C; Reuser A J
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.
1987: Willemsen R; van Dongen J M; Ginns E I; Sips H J; Schram A W; Tager J M; Barranger J A; Reuser A J
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry.
Journal of neurology 1987;234(1):44-51.
1986: Sips H J; Reuser A J; van der Veer E
Synthesis and intracellular localization of chick acid alpha-glucosidase in chick erythrocyte-human fibroblast heterokaryons. A model system for the study of lysosomal enzyme synthesis.
Experimental cell research 1986;162(2):555-61.
1985: van Dongen J M; Willemsen R; Ginns E I; Sips H J; Tager J M; Barranger J A; Reuser A J
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
European journal of cell biology 1985;39(1):179-89.
1984: Reuser A J; Kroos M A; Ponne N J; Wolterman R A; Loonen M C; Busch H F; Visser W J; Bolhuis P A
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.
1984: Loonen M C; Reuser A J; Visser P; Arts W F
Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient.
Clinical genetics 1984;26(2):139-49.
1983: Barneveld R A; Tegelaers F P; Ginns E I; Visser P; Laanen E A; Brady R O; Galjaard H; Barranger J A; Reuser A J; Tager J M
Monoclonal antibodies against human beta-glucocerebrosidase.
European journal of biochemistry / FEBS 1983;134(3):585-9.
1983: Ginns E I; Tegelaers F P; Barneveld R; Galjaard H; Reuser A J; Brady R O; Tager J M; Barranger J A
Determination of Gaucher's disease phenotypes with monoclonal antibody.
Clinica chimica acta; international journal of clinical chemistry 1983;131(3):283-7.
1983: Barneveld R A; Keijzer W; Tegelaers F P; Ginns E I; Geurts van Kessel A; Brady R O; Barranger J A; Tager J M; Galjaard H; Westerveld A; Reuser A J
Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies.
Human genetics 1983;64(3):227-31.
1983: Ginns E I; Erickson A; Tegelaers F P; Barneveld R; Reuser A J; Brady R O; Tager J M; Barranger J A
Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes.
Isozymes 1983;11():83-93.
1982: Van der Veer E; Barneveld R A; Reuser A J
Expression of lysosomal enzymes in human mutant fibroblast-chick erythrocyte heterokaryons.
Experimental cell research 1982;142(1):235-45.

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