M. Kroos

发表

N-glycans of recombinant human acid α-glucosidase expressed in the milk of transgenic rabbits

Kate Zhang, Qun Zhou, A. Reuser, 2007 .

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.

B. Oostra, A. Reuser, M. Kroos, 1991, Biochemical and biophysical research communications.

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

W. Hop, B. V. van Engelen, J. Verschuuren, 2012, Orphanet Journal of Rare Diseases.

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.

M. Kroos, S. Richards, A. T. van der Ploeg, 2010, Molecular genetics and metabolism.

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

M. Kroos, J. Wokke, M. Ausems, 1999, European Journal of Human Genetics.

Biochemical genetics of glycogenosis type II in Brahman cattle.

W. J. Visser, B. Oostra, A. Reuser, 1993, Biochemical and Biophysical Research Communications - BBRC.

Determination of the structure of the carbohydrate chains of acid alpha-glucosidase from human placenta.

H. Galjaard, A. Reuser, J. Vliegenthart, 1987, Biochimica et Biophysica Acta.

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

D. Halley, A. Reuser, M. Kroos, 2008, Human mutation.

Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

M. Sekijima, M. Kroos, K. Ohno, 2009, Journal of Human Genetics.

Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.

P. Visser, E. V. D. van de Kamp, A. Reuser, 1999, Human molecular genetics.

Cotransfer of syntenic human genes into mouse cells using isolated metaphase chromosomes or cellular DNA

A. Reuser, M. Kroos, A. Reuser, 2004, Human Genetics.

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.

B. Oostra, A. Reuser, M. Kroos, 1993, The Biochemical journal.

Human lysosomal alpha-glucosidase. Characterization of the catalytic site.

B. Oostra, J. van Beeumen, A. Reuser, 1991, The Journal of biological chemistry.

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

M. Ausems, M. Kroos, A. T. van der Ploeg, 2007, Neurology.

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

L. Sandkuijl, R. Wevers, A. Reuser, 2000, Public Health Genomics.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

R. Lachmann, M. Kroos, T. Derks, 2016, Orphanet Journal of Rare Diseases.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

W. Hop, W. Arts, J. Smeitink, 2004, Pediatrics.

Cell-free translation of human lysosomal alpha-glucosidase: evidence for reduced precursor synthesis in an adult patient with glycogenosis type II.

A. Reuser, M. Kroos, E. H. Hoefsloot, 1987, Biochimica et biophysica acta.

Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency

M. Kroos, A. Reuser, 2007 .

Enzyme therapy for Pompe disease: from science to industrial enterprise

M. Kroos, M. Verbeet, A. T. van der Ploeg, 2002, European Journal of Pediatrics.

Recombinant Human Acid α-Glucosidase: High Level Production in Mouse Milk, Biochemical Characteristics, Correction of Enzyme Deficiency in GSDII KO Mice

A. Reuser, F. Pieper, M. Kroos, 1998 .

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.

A. Reuser, M. Kroos, N. Brons, 1991, The Journal of clinical investigation.

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

A. Reuser, M. Ausems, H. K. Ploos van Amstel, 1995, Journal of medical genetics.

Glycogenosis type II (acid maltase deficiency)

A. Reuser, M. Kroos, W. Kleijer, 1995, Muscle & nerve. Supplement.

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

F. Endo, T. Okuyama, M. Kroos, 2011, Molecular genetics and metabolism.

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

F. Endo, T. Okuyama, M. Kroos, 2009, Molecular genetics and metabolism.

Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study with lysosomal enzymes and the mannose 6-phosphate receptor

R. Willemsen, A. Reuser, A. Hoogeveen, 2005, The Histochemical Journal.

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

M. Kroos, A. T. van der Ploeg, A. Reuser, 2014, Journal of Inherited Metabolic Disease.

Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.

J. van Beeumen, A. Reuser, M. Kroos, 1993, The Journal of biological chemistry.

Enzymatic and molecular strategies to diagnose Pompe disease.

M. Kroos, T. Okumiya, A. T. van der Ploeg, 2010, Expert opinion on medical diagnostics.

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

A. Reuser, M. Kroos, M. Jackson, 2009, Journal of Inherited Metabolic Disease.

Seven cases of Pompe disease from Greece

F. Muntoni, A. Reuser, M. Kroos, 2006, Journal of Inherited Metabolic Disease.

Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

D. V. Leenen, J. Fletcher, R. Wevers, 2004, Human mutation.

Genotype‐phenotype correlation in adult‐onset acid maltase deficiency

A. Reuser, M. Ausems, E. Ippel, 1995, Annals of neurology.

Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?

A. Reuser, M. Kroos, W. Kleijer, 1995, Pediatric Research.

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

W. Pijnappel, M. Kroos, A. Bergsma, 2019, Human mutation.

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

P. Laissue, M. Kroos, H. Mateus, 2013, JIMD reports.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

L. Hoefsloot, J. Saris, D. Halley, 2019, European Journal of Human Genetics.

N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.

Kate Zhang, Qun Zhou, A. Reuser, 2007, Glycobiology.

Use of a monoclonal antibody to distinguish between precursor and mature forms of human lysosomal alpha-glucosidase.

A. Reuser, M. Kroos, R. O. Oude Elferink, 1984, European journal of biochemistry.

Hum an a-N-acetylgalactosaminidase (a-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

R. Willemsen, A. Reuser, M. Kroos, 2017 .

deficiency: new mutations andtheparadox between genotypeandphenotype

Yoshiyuki Suzuki, D. Schindler, R. Wevers, 2011 .

Rat Heart Perfusion as Model System for Enzyme Replacement Therapy in Glycogenosis Type II

A. Reuser, M. Kroos, R. Willemsen, 1990, Pediatric Research.

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

M. Kroos, A. T. van der Ploeg, M. Wijgerde, 2012, Molecular genetics and metabolism.

A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II

K. Macdermot, A. Reuser, M. Joosse, 1997, Journal of Inherited Metabolic Disease.

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α‐glucosidase gene

D. V. Leenen, A. Reuser, M. Kroos, 1998 .

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.

D. van Leenen, A. Reuser, M. Kroos, 1998, Clinical genetics.

Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.

D. van Leenen, A. Reuser, M. Kroos, 1997, Biochemical and biophysical research communications.

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.

B. Oostra, A. Reuser, M. Kroos, 1993, The Biochemical journal.

Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex.

L. Hoefsloot, B. Oostra, A. Reuser, 1988, The EMBO journal.

Uptake and stability of human and bovine acid alpha-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients.

W. J. Visser, A. Reuser, M. Kroos, 1984, Experimental cell research.

Isolation and characterization of a precursor form of lysosomal α‐glucosidase from human urine

A. Reuser, M. Kroos, R. Elferink, 1984 .

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

D. Halley, M. Kroos, D. Grinberg, 2013, Orphanet Journal of Rare Diseases.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

J. Smeitink, A. Reuser, M. Kroos, 1998, Human mutation.

Two mutations affecting the transport and maturation of lysosomal α‐glucosidase in an adult case of glycogen storage disease type II

B. Oostra, A. Reuser, M. Kroos, 1993, Human mutation.

AdultandInfantile Glycogenosis Type11inOneFamily, Explained byAllelic Diversity

L. Hoefsloot, B. Oostra, M. Kroos, 1990 .

Clinical Diversity in Lysosomal Storage Disorders: Molecular and Cellular Aspects

B. Oostra, A. Reuser, M. Kroos, 1988 .

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

D. Swallow, H. Galjaard, A. Reuser, 1987, The Journal of clinical investigation.

alpha-Glucosidase deficiency (Pompe's disease).

J. Fransen, A. Reuser, J. Klumperman, 1987, Enzyme.

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

A. Reuser, M. Kroos, H. Takeuchi, 2006, Molecular genetics and metabolism.

Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human -Glucosidase From Milk

W. Hop, A. Vulto, M. Kroos, 2004 .

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.

M. Willart, B. Lambrecht, M. Verstegen, 2010, Blood.

Expression of cDNA-encoded human acid α-glucosidase in milk of transgenic mice

F. Pieper, M. Kroos, M. Verbeet, 1996 .

An investigation of the possible influence of neutral α‐glucosidases on the clinical heterogeneity of glycogenosis type II

D. Swallow, A. Reuser, M. Kroos, 1989, Annals of human genetics.

Adult forms of glycogenosis type II

A. Reuser, M. Kroos, 1982 .

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

A. V. D. van den Ouweland, D. Schindler, R. Wevers, 1996, Journal of medical genetics.

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

L. Hoefsloot, B. Oostra, A. Reuser, 1990, American journal of human genetics.

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.

A. Reuser, M. Kroos, A. T. van der Ploeg, 2007, Molecular genetics and metabolism.

Identification and Characterization of Aberrant GAA Pre‐mRNA Splicing in Pompe Disease Using a Generic Approach

D. Halley, M. Kroos, W. Pijnappel, 2015, Human mutation.

Homozygous deletion of exon 18 leads to degradation of the lysosomal α‐glucosidase precursor and to the infantile form of glycogen storage disease type II

J. Smeitink, A. Reuser, M. Ausems, 1996, Clinical genetics.

Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families

C. Wijmenga, M. Bitner-Glindzicz, D. Kelsell, 2001, Journal of medical genetics.

The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II

B. Oostra, R. Willemsen, A. Reuser, 1994 .

Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.

A. Reuser, M. Joosse, M. Kroos, 1994, Biochemical and biophysical research communications.

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

B. Oostra, P. Visser, E. V. D. van de Kamp, 1998, Human molecular genetics.

Glucosidase From Milk α Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human

W. Hop, A. Vulto, M. Kroos, 2004 .

Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease).

R. Sinke, M. Ausems, J. Wokke, 2006, Experimental and molecular pathology.

Human Mutation

K. Fliessbach, M. Hüll, L. Frölich, 2017 .

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

A. D’Amico, C. Rosano, B. Bembi, 2008, Human mutation.

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

L. Hoefsloot, B. Oostra, A. Reuser, 1990, The Biochemical journal.

Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

W. Pijnappel, M. Kroos, A. T. van der Ploeg, 2017, Developmental medicine and child neurology.

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

Miguel Ángel Martínez, D. Rizopoulos, M. Kruijshaar, 2018, PloS one.

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

M. Kroos, W. Kleijer, O. V. van Diggelen, 1997, Human mutation.

An investigation of the properties and possible clinical significance of the lysosomal α‐glucosidase GAA * 2 allele

D. Swallow, A. Reuser, M. Kroos, 1989, Annals of human genetics.

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.

A. Reuser, M. Kroos, R. O. Oude Elferink, 1985, The Journal of biological chemistry.

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy

D. Rizopoulos, M. Kruijshaar, W. Pijnappel, 2016, Genetics in Medicine.

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.

M. Tarnopolsky, A. Reuser, M. Kroos, 2014, Gene.

Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

W. Vletter, M. Kroos, M. Geleijnse, 2008, Journal of the Neurological Sciences.

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

M. Kroos, F. Gellerich, R. Korinthenberg, 2004, Neuromuscular Disorders.

The genotype–phenotype correlation in Pompe disease

A. Reuser, M. Kroos, A. T. van der Ploeg, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid α-glucosidase

W. J. Visser, M. Kroos, P. Bolhuis, 1987, Journal of the Neurological Sciences.

Enzyme therapy for Pompe disease: from science to industrial enterprise

A. Reuser, M. Kroos, M. Verbeet, 2007, European Journal of Pediatrics.

Expression of cDNA-encoded human acid alpha-glucosidase in milk of transgenic mice.

A. Reuser, F. Pieper, M. Kroos, 1996, Biochimica et biophysica acta.

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.

B. Oostra, A. Reuser, M. Joosse, 1994, Human molecular genetics.

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

R. Wevers, D. Halley, M. Kroos, 2008, European Journal of Human Genetics.

A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infection.

M. Kroos, J. Kimpen, G. Visser, 2002, Pediatrics.

Antibody formation to enzyme therapy in classic infantile Pompe disease: implications of patient age

M. Kroos, A. T. van der Ploeg, A. Reuser, 2013, BMC Musculoskeletal Disorders.

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

F. Rahman, A. Rolfs, C. Hendriksz, 2010, Human mutation.

A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver

E. Ginns, R. Willemsen, A. Reuser, 1995, The Histochemical Journal.

A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver

E. Ginns, R. Willemsen, A. Reuser, 2004, The Histochemical Journal.

tations Affecting the Transport and

A. Reuser, E. Graaff, M. Kroos, 2005 .

Km mutant of acid α‐glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement

A. Reuser, M. Kroos, A. Tsuji, 1988, Clinical genetics.

The genotype–phenotype correlation in Pompe disease

A. Reuser, M. Kroos, A. T. van der Ploeg, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Endogenous Type II cGMP-dependent Protein Kinase Exists as a Dimer in Membranes and Can Be Functionally Distinguished from the Type I Isoforms*

S. Lohmann, T. Jarchau, A. Vaandrager, 1997, The Journal of Biological Chemistry.

A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

M. Kroos, A. T. van der Ploeg, A. Reuser, 2013, BMC Musculoskeletal Disorders.

Human Mutation

M. Kroos, A. Bergsma, Monica Y. Niño, 2019 .