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91
المؤلفون: Maria Vicatou, J. L. Grech
المصدر: British journal of haematology. 25(2)
مصطلحات موضوعية: Genetics, Electrophoresis, Male, Enzyme deficiency, Incidence (epidemiology), Infant, Newborn, Physiology, Hematology, Biology, medicine.disease, language.human_language, Dehydrogenase deficiency, Infant, Newborn, Diseases, Maltese, Mediterranean Islands, Glucosephosphate Dehydrogenase Deficiency, Sex Factors, Population Surveillance, language, medicine, Humans, Female, Glucose-6-phosphate dehydrogenase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36cd8b7255458b7c8995ae6ba1d450d6Test
https://pubmed.ncbi.nlm.nih.gov/4726905Test -
92
المؤلفون: J. Butterworth, D.M. Broadhead, A.D. Bain, G.R. Sutherland
المصدر: Clinica chimica acta; international journal of clinical chemistry. 52(2)
مصطلحات موضوعية: Enzyme deficiency, Amniotic fluid, Time Factors, Glycoside Hydrolases, Clinical Biochemistry, Cell, Acid Phosphatase, Single sample, Biology, Biochemistry, Pregnancy, Culture Techniques, medicine, Humans, Glucosaminidase, Cells, Cultured, Glucuronidase, chemistry.chemical_classification, Analysis of Variance, Arylsulphatase A, Biochemistry (medical), Acid phosphatase, General Medicine, Amniotic Fluid, Molecular biology, Arabinose, Galactosidases, Enzyme, medicine.anatomical_structure, Hexosaminidases, chemistry, biology.protein, Female, Sulfatases, Lysosomes, Mannose, Glucosidases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::598caae2223db1e7cea5963615abacbaTest
https://pubmed.ncbi.nlm.nih.gov/4828230Test -
93
المؤلفون: B. A. Britt, Cesare Cerri, Joseph H. Willner, D. S. Wood
المصدر: Human genetics. 57(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Enzyme deficiency, Biopsy, Adenylate kinase, Biology, Adenylate kinase deficiency, chemistry.chemical_compound, Internal medicine, Caffeine, Genetics, medicine, Humans, heterocyclic compounds, Child, Genetics (clinical), medicine.diagnostic_test, Muscles, Adenylate Kinase, Phosphotransferases, Malignant hyperthermia, medicine.disease, Molecular medicine, Endocrinology, Spectrometry, Fluorescence, chemistry, Caffeine contracture, Female, Malignant Hyperthermia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0562c1941361628b133cb71a8cc12d6Test
https://pubmed.ncbi.nlm.nih.gov/6265342Test -
94
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 -
95
المؤلفون: Akira Yoshida, L. A. Malcolm, E. R. Giblett
المصدر: Annals of human genetics. 37(2)
مصطلحات موضوعية: Male, New Guinea, Enzyme deficiency, New guinea, Biology, Glucosephosphate Dehydrogenase, Molecular biology, Isoenzymes, chemistry.chemical_compound, Consanguinity, Glucosephosphate Dehydrogenase Deficiency, Biochemistry, chemistry, Gene Frequency, Genetics, Glucose-6-phosphate dehydrogenase, Distribution (pharmacology), Humans, Female, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f790f5abd243a21fd93f852d0e15144Test
https://pubmed.ncbi.nlm.nih.gov/4768553Test -
96
المؤلفون: Henri Vergnes, Akira Yoshida, Michèle Gherardi
المصدر: Human genetics. 34(3)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Enzyme deficiency, media_common.quotation_subject, Mutant, Electrophoresis, Starch Gel, Biology, Glucosephosphate Dehydrogenase, Mutant enzyme, G6pd gene, Genetics, Humans, Genetics (clinical), media_common, chemistry.chemical_classification, Daughter, Genetic Variation, Molecular medicine, Human genetics, Pedigree, Kinetics, Enzyme, chemistry, Female, France
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd6ebc6b46bc448ace409b046714be2Test
https://pubmed.ncbi.nlm.nih.gov/1002152Test -
97
المؤلفون: M E, Aguiar, M C, Silva, A M, Lima, M, Auxiliadora, M L, Machado, M M, Conceição, E S, Azevêdo
المصدر: Biochemical medicine. 24(2)
مصطلحات موضوعية: Male, Enzyme deficiency, Placenta, Population, Electrophoresis, Starch Gel, Black People, Biology, Biochemistry, Isozyme, White People, chemistry.chemical_compound, Pregnancy, Hexokinase, Animals, Humans, education, reproductive and urinary physiology, education.field_of_study, Hexokinase activity, Indians, South American, Human placenta, Rat heart, Rats, Isoenzymes, chemistry, embryonic structures, Population study, Female, Brazil
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a70f795157b32393815e216a61e68aTest
https://pubmed.ncbi.nlm.nih.gov/7458924Test -
98
المؤلفون: Assma Nour, Sami Khalifa, Nemat Hashem
المصدر: American journal of physical anthropology. 31(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Enzyme deficiency, White People, Internal medicine, medicine, Isoniazid, Humans, Heterozygous carrier, Allele, Alleles, Genetics, business.industry, Incidence (epidemiology), bacterial infections and mycoses, Endocrinology, Genetics, Population, Anthropology, Acetylesterase, Egypt, Female, Anatomy, business, Metabolism, Inborn Errors, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb129ecf7860d635b3841eb3fafc0072Test
https://pubmed.ncbi.nlm.nih.gov/5800907Test -
99
المؤلفون: J. Fernandes, F. Huijing
المصدر: Archives of disease in childhood. 43(229)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Glycoside Hydrolases, Diet therapy, Fructose, chemistry.chemical_compound, Internal medicine, medicine, Leukocytes, Glycogen storage disease, Humans, Branching enzyme deficiency, Glycogen, business.industry, Galactose, Infant, Glucose Tolerance Test, medicine.disease, Glucagon, Glycogen Storage Disease, Liver Glycogen, Zinc, Endocrinology, chemistry, Milk fat, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Glucosidases, Carbohydrate Metabolism, Inborn Errors, Diet Therapy, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d55f8d9cf69d91fb74d76f1a129293Test
https://pubmed.ncbi.nlm.nih.gov/5240133Test -
100
المؤلفون: Edward M. Scott
المصدر: Clinica chimica acta; international journal of clinical chemistry. 23(3)
مصطلحات موضوعية: Male, Heterozygote, Enzyme deficiency, Stereochemistry, Chemistry, Biochemistry (medical), Clinical Biochemistry, Homozygote, Substrate (chemistry), General Medicine, Reductase, NAD, Biochemistry, Pedigree, Indophenol, hemic and lymphatic diseases, Humans, Female, Methemoglobinemia, Oxidoreductases, Methemoglobin, Dihydrolipoamide Dehydrogenase, Ferrocyanides
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824b8743e8b93b97d3c576074ea91d46Test
https://pubmed.ncbi.nlm.nih.gov/4307481Test