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Monique Hermans

Research Profile

Disorders

Glycogen Storage Disease Type II

Chemicals & Drugs

Anatomy

Physiology

Concepts & Ideas

Molecular Sequence Data

Procedures

Living Beings

Infants

Genes & Molecular Sequences

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Publications

TOP 3
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.
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.
Olaf Bodamer; Dorothea Haas; Monique M P Hermans; Arnold J J Reuser; Georg F Hoffmann
L-alanine supplementation in late infantile glycogen storage disease type II.

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All Publications

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: 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: Olaf Bodamer; Dorothea Haas; Monique M P Hermans; Arnold J J Reuser; Georg F Hoffmann
L-alanine supplementation in late infantile glycogen storage disease type II.
Pediatric neurology 2002;27(2):145-6.
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: J A Becker; J Vlach; Nina Raben; Kanneboyina Nagaraju; EM Adams; Monique M P Hermans; Arnold J J Reuser; S S Brooks; Cynthia J Tifft; Rochelle Hirschhorn; Maryann L Huie; Marc Nicolino; Paul H Plotz
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: 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.
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.
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: 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.
1993: Monique M P Hermans; L P Svetkey; Ben A Oostra; Y T Chen; Arnold J J Reuser
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: 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.
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.