Výsledky vyhledávání - "B. Brouwer-Kelder"

Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)

Autor: B. Brouwer-Kelder, R. G. Slee, J. F. Koster, J. J. Martin, M. F. Niermeijer, W. Mekes, H. F. M. Busch, M. C. B. Loonen, Joseph M. Tager, AndréW. Schram

Publikováno v: Clinical Genetics. 19:55-63

In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30fc38f6f7039b10167165c20279f0f1
https://doi.org/10.1111/j.1399-0004.1981.tb00668.x

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Enzymological properties and immunological characterization of α-galactosidase isoenzymes from normal and Fabry human liver

Autor: B. Brouwer-Kelder, Wilma E. Donker-Koopman, Mic N. Hamers, André W. Schram, Joseph M. Tager

Publikováno v: Biochimica et Biophysica Acta (BBA) - Enzymology. 482:125-137

1. A method is described for the rapid isolation of alpha-galactosidases A and B (alpha-D-galactoside galactohydrolase, EC 3.2.1.22) from normal human liver. 2. When the same method is applied to Fabry liver, most of the alpha-galactosidase activity

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7274348f84992e34f917ccfb1614664
https://doi.org/10.1016/0005-2744(77)90360-6

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Use of immobilized antibodies in investigating acid α-glucosidase in urine in relation to Pompe's disease

Autor: Christa Loonen, Wilma E. Donker-Koopman, AndréW. Schram, B. Brouwer-Kelder, Joseph M. Tager, Mic N. Hamers

Publikováno v: Biochimica et Biophysica Acta (BBA) - Enzymology. 567:370-383

1. (1) A simple method is described for the isolation of the lysosomal enzyme, acid α-glucosidase (α- d -glucoside glucohydrolase, EC 3.2.1.20) from normal human liver. Antibodies raised against the purified enzyme were immobilized by covalent coup

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a310f66c57c070009104abea1bc231bb
https://doi.org/10.1016/0005-2744(79)90123-2

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Monoclonal Antibodies Against Human Acid α-Glucosidase

Autor: G.M. Van Thienen, F. P. W. Tegelaers, Joseph M. Tager, B. Brouwer-Kelder, R. Kalsbeek, John Hilkens, F. Buijs, Jo Hilgers

Acid α-glucosidase purified from human placenta was used to hyperimmunize a mouse according to Stahli and coworkers (Stahli, C., T. Staehlin, V. Miggiano, J. Schmidt and P. Haring (1980) J. Immunol. Methods 32, 297-304). After fusion of spleen cells

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8d2b7b885adb7193828251bc47dd1150
https://doi.org/10.1016/b978-0-08-027988-6.50202-0

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Monoclonal antibodies against human acid alpha-glucosidase

Autor: B. Brouwer-Kelder, John Hilkens, Jo Hilgers, F. Buijs, Van Thienen Gm, Joseph M. Tager, Frans P. W. Tegelaers

Publikováno v: Biochimica et biophysica acta. 678(1)

Acid alpha-glucosidase purified from human placenta was used to immunize a mouse (strain Balb/cHeA) according to a procedure described earlier (Stahli, C., Staehlin, T., Miggiano, V., Schmidt, J. and Haring, P. (1980) J. Immunol. Methods 32, 297-304)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b095c06f482d691a2b485a19e3053ad
https://pubmed.ncbi.nlm.nih.gov/6171307

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Further characterization of two forms of N-acetyl-alpha-galactosaminidase from human liver

Autor: B. Brouwer-Kelder, AndréW. Schram, Wilma E. Donker-Koopman, Mic N. Hamers, Philip G. de Groot, Joseph M. Tager

Publikováno v: Biochimica et biophysica acta. 525(2)

1. 1. 2 form of N-acetyl-α-galactosaminidase (EC 3.2.1.22) can be isolated from human liver using Sepharose 4B-concanavalin A chromatography, followed by CM-cellulose chromatography. Both forms hydrolyse not only p-nitrophenyl-N-acetyl-α-galactosam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79dae8e2d61a5c8eeb8e62d4f372987
https://pubmed.ncbi.nlm.nih.gov/210819

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A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies

Autor: M C, Loonen, H F, Busch, J F, Koster, J J, Martin, M F, Niermeijer, A W, Schram, B, Brouwer-Kelder, W, Mekes, R G, Slee, J M, Tager

Publikováno v: Neurology. 31(10)

In the same family, the generalized or infantile form of acid maltase deficiency (glycogenosis type II, Pompe disease) and the muscular or adult-onset form affected different individuals. Autosomal-recessive inheritance for the two clinical forms was

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b54c34c9d576bf8845fa751d8efdf0a
https://pubmed.ncbi.nlm.nih.gov/6810200

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The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation

Autor: A. Tsiapara, Johannes M. F. G. Aerts, M. van Leeuwen, D.C. Jansen, Wilma E. Donker-Koopman, M.C. Sá Miranda, L.Wanzeller de Lacerda, Joseph M. Tager, B. Brouwer-Kelder, S. van Weely, AndréW. Schram

Publikováno v: ResearcherID
Scopus-Elsevier
Clinica chimica acta; international journal of clinical chemistry, 203(2-3), 349-361. Elsevier

The feasibility of using urine samples for the identification of patients with Gaucher disease and carriers has been investigated. It was found that the pH of a urine sample should be pH 6.0 or lower to ensure stability of lysosomal hydrolases. Two p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f01275ff9f5068b155a6b335c45f2dc
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=1838035

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