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1
المؤلفون: Akira Hirono, Shiro Miwa, Hiroshi Fujii, K. Hirono, H. Karro, Veronica Harsányi, Éva Gyodi, Susan R. Hollán, Marianna Inselt-Kovács
المصدر: Human genetics. 92(5)
مصطلحات موضوعية: Hemolytic anemia, Adult, Male, medicine.medical_specialty, Heterozygote, Enzyme deficiency, Erythrocytes, Neurological disorder, Biology, Hyperkinesis, Anemia, Hemolytic, Congenital, Triosephosphate isomerase, Central Nervous System Diseases, Internal medicine, parasitic diseases, Genetics, medicine, Humans, Age of Onset, Child, Triosephosphate isomerase deficiency, Genetics (clinical), Homozygote, medicine.disease, Red blood cell, medicine.anatomical_structure, Endocrinology, Dyskinesia, Dihydroxyacetone Phosphate, Female, medicine.symptom, Congenital hemolytic anemia, Metabolism, Inborn Errors, Triose-Phosphate Isomerase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26ea25eaa2f4b34dc39ed7814c9f5f6Test
https://pubmed.ncbi.nlm.nih.gov/8244340Test -
2
المؤلفون: Hyeon Jin Park, Byung Kiu Park, Yeon Jung Lim, Thad T. Ghim, Sun-Young Kong, Jeong A Park
المصدر: Journal of Korean Medical Science
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Erythrocytes, Cell Therapy & Organ Transplantation, Bone marrow transplantation, Anemia, Enolase, Erythrocyte Enzyme Deficiency, Bone Marrow Cells, Case Report, hemic and lymphatic diseases, medicine, Humans, Transplantation, Homologous, Diamond–Blackfan anemia, Autogenous bone, Child, Anemia, Diamond-Blackfan, Bone Marrow Transplantation, Red Cell Enolase Deficiency, Red Cell, Marrow transplantation, business.industry, Enolase deficiency, Infant, General Medicine, medicine.disease, Child, Preschool, Phosphopyruvate Hydratase, Immunology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c561b107d10477139759a3ed735701Test
https://doi.org/10.3346/jkms.2010.25.4.626Test -
3
المؤلفون: K.Bryan Trimmer, Jack B. Alperin, Gordon C. Mills
المصدر: Biochemical Medicine. 13:264-275
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Erythrocytes, Enzyme deficiency, Dehydrogenase, Glucosephosphate Dehydrogenase, Biology, Biochemistry, chemistry.chemical_compound, Drug Stability, In vivo, hemic and lymphatic diseases, Humans, Temperature, Genetic Variation, nutritional and metabolic diseases, Hydrogen-Ion Concentration, New variant, Texas, Kinetics, Chronic hemolytic anemia, Glucose 6-phosphate, chemistry, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42eed3d6b7a28a5c3d0d5353d8366f2Test
https://doi.org/10.1016/0006-2944Test(75)90084-8 -
4
المؤلفون: Grace K. Penfold, Eftihia Cayanis, Lorna G. Mac Dougall, Ida Freiman
المصدر: British Journal of Haematology. 37:363-391
مصطلحات موضوعية: Anemia, Hemolytic, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Biology, Asymptomatic, South Africa, Family studies, Glucosephosphate Isomerase, Internal medicine, medicine, Humans, Thermolabile, Child, chemistry.chemical_classification, Genetics, Glucose-6-Phosphate Isomerase, Wild type, Heterozygote advantage, Anemia, Hemolytic, Congenital Nonspherocytic, Hematology, Pedigree, Enzyme, Endocrinology, chemistry, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5e14de763848bbca7697ebe7257590Test
https://doi.org/10.1111/j.1365-2141.1977.tb01007.xTest -
5
المؤلفون: Shiro Miwa
المصدر: Nihon Naika Gakkai Zasshi. 65:111-127
مصطلحات موضوعية: Male, medicine.medical_specialty, Erythrocytes, Phosphofructokinase-1, Pyruvate Kinase, Anemia, Hemolytic, Congenital, Hereditary Hemolytic Anemia, Erythrocyte enzyme deficiency, Hexokinase, Trioses, Internal medicine, medicine, Humans, Adenosine Triphosphatases, L-Lactate Dehydrogenase, business.industry, Phosphotransferases, Glucose-6-Phosphate Isomerase, Glyceraldehyde-3-Phosphate Dehydrogenases, General Medicine, Diphosphoglyceric Acids, Glutathione, Phosphoglycerate Kinase, Glucosephosphate Dehydrogenase Deficiency, Glutathione Reductase, Endocrinology, Peroxidases, Phosphopyruvate Hydratase, Female, Carbohydrate Epimerases, business, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52ea2310f43d6a400a99e3c2a998cf7Test
https://doi.org/10.2169/naika.65.111Test -
6
المؤلفون: Yves Nordmann, G. Aitken, H. de Verneuil
المصدر: Human Genetics. 44:145-151
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Erythrocytes, Enzyme deficiency, Adolescent, Carboxy-Lyases, Uroporphyrinogen III decarboxylase, Physiology, Biology, Diagnosis, Differential, Porphyrias, chemistry.chemical_compound, Uroporphyrinogen, Genetics, medicine, Humans, Uroporphyrinogen Decarboxylase, Metabolic disease, Child, skin and connective tissue diseases, Uroporphyrinogen decarboxylase activity, Genetics (clinical), Hepatoerythropoietic porphyria, nutritional and metabolic diseases, medicine.disease, humanities, Pedigree, Porphyria, chemistry, Female, Asymptomatic carrier
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0365c8f6283271442f78b44276eb222Test
https://doi.org/10.1007/bf00295407Test -
7
المؤلفون: C. W. Daeschner, Robert J Mamlok, Randall M. Goldblum, Gordon C. Mills
المصدر: Enzyme. 34:15-21
مصطلحات موضوعية: Adult, Male, Hemolytic anemia, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Neutrophils, Anemia, Dehydrogenase, Glucosephosphate Dehydrogenase, Anemia, Hemolytic, Congenital, Biochemistry, Substrate Specificity, chemistry.chemical_compound, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Glucose-6-phosphate dehydrogenase, chemistry.chemical_classification, Anemia, Hemolytic, Congenital Nonspherocytic, Fibroblasts, Hydrogen-Ion Concentration, Phosphate, medicine.disease, Isoenzymes, Kinetics, Red blood cell, Glucosephosphate Dehydrogenase Deficiency, Endocrinology, Enzyme, medicine.anatomical_structure, chemistry, Child, Preschool, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41ef4e6fd54a882ab3cb9a49cde0d8c6Test
https://doi.org/10.1159/000469354Test -
8
المؤلفون: Hannu Näveri, Matti Härkönen, Timo Helske, Pekka Vuopio
المصدر: Scandinavian journal of haematology. 15(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Enzyme deficiency, Primaquine, Erythrocytes, Dehydrogenase, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Finland, chemistry.chemical_classification, Sex Chromosomes, Red Cell, Hematology, Erythrocyte Aging, New variant, Haemolysis, medicine.disease, 3. Good health, Pedigree, Enzyme, Endocrinology, Glucosephosphate Dehydrogenase Deficiency, chemistry, 030220 oncology & carcinogenesis, Female, 030215 immunology, Glucose-6-phosphate dehydrogenase deficiency, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a6164880c8509a49009ad28a483d13Test
https://pubmed.ncbi.nlm.nih.gov/1188317Test -
9
المؤلفون: Kiyoh Tanishima, Hitoshi Ohkuwa, Shigeru Matsukawa, Kazuhiro Mawatari, Eisuke Takazakura, Akio Tomoda, Yoshimasa Yoneyama, Kazuo Tanimoto
المصدر: Blood. 66(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Familial Study, Hereditary methemoglobinemia, Enzyme deficiency, Erythrocytes, Immunology, Reductase, Biochemistry, Internal medicine, medicine, Humans, Platelet, Normal control, Cytochrome b5 reductase, Cytochrome Reductases, chemistry.chemical_classification, business.industry, Cell Biology, Hematology, Pedigree, Endocrinology, Enzyme, chemistry, Female, Isoelectric Focusing, business, Methemoglobinemia, Cytochrome-B(5) Reductase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fcd861d29890bbc518ba1d7c469f7beTest
https://pubmed.ncbi.nlm.nih.gov/4063522Test -
10
المصدر: The New England journal of medicine. 291(19)
مصطلحات موضوعية: Male, medicine.medical_specialty, Enzyme deficiency, Erythrocytes, Adolescent, Biopsy, Placenta, Thin layer, Cerebrosides, Alglucerase, Internal medicine, Medicine, Humans, Gaucher Disease, medicine.diagnostic_test, business.industry, Lipid metabolism, General Medicine, Middle Aged, medicine.disease, Lipid Metabolism, Lipids, Gaucher's disease, Endocrinology, Liver metabolism, Glucose, Liver, Injections, Intravenous, Female, Chromatography, Thin Layer, Glycolipids, business, Glucocerebrosidase, Glucosidases, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc8eeb20a830b9d5cbf4ed7af02724ceTest
https://pubmed.ncbi.nlm.nih.gov/4415565Test