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1
المؤلفون: 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
المصدر: Clinical Genetics. 19:55-63
مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Loss of heterozygosity, Internal medicine, Leukocytes, Genetics, medicine, Humans, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, biology, Glycogen Storage Disease Type II, Muscles, Skeletal muscle, alpha-Glucosidases, Heterozygote advantage, Fibroblasts, Glycogen Storage Disease, Enzyme assay, Endocrinology, medicine.anatomical_structure, Biochemistry, Alpha-glucosidase, Skin biopsy, biology.protein, Immunohistochemistry, Female, Glucosidases
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2
المؤلفون: E Koller, R G Slee, Johan F. Koster, Hermann Esterbauer
المصدر: Biochemical Journal. 239:405-409
مصطلحات موضوعية: Fluorophore, Phospholipid, Mitochondria, Liver, Phosphatidylserines, Biology, Iron Chelating Agents, Biochemistry, 4-Hydroxynonenal, Lipid peroxidation, chemistry.chemical_compound, Animals, Molecular Biology, Phospholipids, Phosphatidylethanolamine, Aldehydes, Phosphatidylethanolamines, Cell Biology, Phosphatidylserine, Lipid Metabolism, Fluorescence, Rats, Adenosine Diphosphate, Spectrometry, Fluorescence, Chromogenic Compounds, chemistry, Microsomes, Liver, Microsome, NADP, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8f4c3f0fb4f0580d6acb8eef975a760
https://doi.org/10.1042/bj2390405 -
3
المؤلفون: R. G. Slee, Willem C. Hülsmann, J. F. Koster
المصدر: European Journal of Clinical Investigation. 2:467-471
مصطلحات موضوعية: Electrophoresis, Heart Defects, Congenital, Heterozygote, medicine.medical_specialty, Heart Diseases, Clinical Biochemistry, Cardiomegaly, Fructose, Disease, Disaccharides, Biochemistry, Turanose, chemistry.chemical_compound, Internal medicine, Glycogen storage disease type II, Leukocytes, medicine, Humans, Maltase deficiency, In patient, Chemistry, Heterozygote advantage, Syndrome, General Medicine, Glycogen Storage Disease, medicine.disease, Glucose, Endocrinology, Neutral Maltase, Maltase, Glucosidases
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4
المؤلفون: J F, Koster, R G, Slee, J, Fernandes
المصدر: Monographs in human genetics. 9
مصطلحات موضوعية: Liver, Pyruvate Dehydrogenase (Lipoamide)-Phosphatase, Muscles, Lactates, Phosphoprotein Phosphatases, Brain, Humans, Infant, Female, Pyruvate Dehydrogenase Complex, Acidosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fa277a4b85c2ea812e7cbebfca82d967
https://pubmed.ncbi.nlm.nih.gov/215904 -
5
المؤلفون: J F, Koster, R G, Slee, T J, van Berkel
المصدر: Bulletin europeen de physiopathologie respiratoire.
مصطلحات موضوعية: Lipid Peroxides, Time Factors, Liver, Palmitoyl-CoA Hydrolase, Glucose-6-Phosphatase, Microsomes, Liver, Animals, Proteins, In Vitro Techniques, Rats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5b03062a08fe714373ac683d40ea047c
https://pubmed.ncbi.nlm.nih.gov/6113863 -
6
المؤلفون: 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
المصدر: Neurology. 31(10)
مصطلحات موضوعية: Adult, Male, Heterozygote, Glycogen Storage Disease Type II, Muscles, Homozygote, Infant, Newborn, Infant, alpha-Glucosidases, Fibroblasts, Middle Aged, Glycogen Storage Disease, Pedigree, Humans, Female, Lymphocytes, Glucan 1,4-alpha-Glucosidase, Glucosidases, Skin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7b54c34c9d576bf8845fa751d8efdf0a
https://pubmed.ncbi.nlm.nih.gov/6810200 -
7
المؤلفون: J F, Koster, R G, Slee, G E, Staal, T J, van Berkel
المصدر: Biochimica et biophysica acta. 258(3)
مصطلحات موضوعية: Enzyme Activation, Phosphoenolpyruvate, Kinetics, Adenosine Triphosphate, Erythrocytes, Liver, Pyruvate Kinase, Fructosephosphates, Glucosephosphates, Animals, Humans, Hexosephosphates, Rats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::81587229cd06ad08e2efb147636e1614
https://pubmed.ncbi.nlm.nih.gov/5017700 -
8
المؤلفون: B. Brouwer-Kelder, H.F.M. Busch, M. F. Niermeijer, J. M. Tager, W. Mekes, J. J. Martin, Johan F. Koster, R. G. Slee, M. C. B. Loonen, A. W. Schram
المصدر: Neurology. 31:1209-1209
مصطلحات موضوعية: Genetics, Mutant, Heterozygote advantage, Disease, Biology, Asymptomatic, Alpha-Glucosidases, Biochemistry, medicine, Maltase deficiency, Neurology (clinical), Glycogenosis Type II, Allele, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4aa2c89c0783df5a8edae04bbb0e12cc
https://doi.org/10.1212/wnl.31.10.1209