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1
المؤلفون: S. Amadori, Anna Tarzia, Paolo Cianciulli, Patrizia Caprari, Donatella Maffi, Salvati Am, Maria Pia Caforio, Maria Teresa Pasquino
المصدر: Annals of Hematology. 80:41-44
مصطلحات موضوعية: Male, Hemolytic anemia, Anemia, Hemolytic, medicine.medical_specialty, hyperbilirubinemia, Anemia, Dehydrogenase, Biology, hemic and lymphatic diseases, Internal medicine, erythrocyte enzyme deficiency, Diseases in Twins, Twins, Dizygotic, medicine, Humans, 6-phosphogluconate dehydrogenase, 6PGD, hemolytic anemia, Phosphogluconate Dehydrogenase, Hematology, General Medicine, Jaundice, medicine.disease, Hemolysis, Red blood cell, medicine.anatomical_structure, Endocrinology, Italy, Female, 6-phosphogluconate dehydrogenase deficiency, medicine.symptom, Settore MED/15 - Malattie del Sangue, Pyruvate kinase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1b7540e1b6230bc614fc008a3d9bc3Test
https://doi.org/10.1007/s002770000233Test -
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المؤلفون: Dana S. Schwartz, Thomas O. Carpenter, Danielle Bentsen
المصدر: Pediatric Radiology. 27:594-595
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, 3-Hydroxysteroid Dehydrogenases, Enzyme deficiency, Adrenal Hyperplasia, Congenital, endocrine system diseases, business.industry, Infant, nutritional and metabolic diseases, Normal values, urologic and male genital diseases, medicine.disease, female genital diseases and pregnancy complications, Recien nacido, Pediatrics, Perinatology and Child Health, Etiology, medicine, Humans, Female, Radiology, Nuclear Medicine and imaging, Congenital adrenal hyperplasia, business, Adrenal Cortex Diseases, Ultrasonography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad33beb7c5dc17696c21cae2dab8d05Test
https://doi.org/10.1007/s002470050192Test -
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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 -
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المؤلفون: Axel Kahn, Pierre Boivin, M. L. North, J. Messer
المصدر: Human Genetics. 27:247-250
مصطلحات موضوعية: Male, Enzyme deficiency, Turkey, Electrophoresis, Starch Gel, Glucosephosphate Dehydrogenase, Biology, In vivo, Genetics, Humans, Genetics (clinical), chemistry.chemical_classification, Blood Cells, Genetic Variation, Infant, Blood Protein Electrophoresis, Molecular medicine, Molecular biology, In vitro, Human genetics, Kinetics, Glucosephosphate Dehydrogenase Deficiency, Enzyme, chemistry, Biochemistry, Female, Specific activity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::853e0c35bfff11253816354e5d2abc01Test
https://doi.org/10.1007/bf00278353Test -
5
المؤلفون: Klaus Altland, H. Werner Goedde
المصدر: Biochemical Genetics. 4:321-338
مصطلحات موضوعية: Male, Immunodiffusion, Silent gene, medicine.medical_specialty, Blood Protein Disorders, Enzyme deficiency, Apnea, Biology, Biochemistry, Serum enzymes, Esterase, Antibodies, Medical microbiology, Antibody Specificity, Methods, Genetics, medicine, Cholinesterases, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Carbon Isotopes, Polymorphism, Genetic, Immune Sera, Esterases, Blood Proteins, General Medicine, Electrophoresis, Disc, Molecular biology, Phenotype, Human genetics, Enzyme assay, Spectrophotometry, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b72496df38be5c0a800acff6f8b05e08Test
https://doi.org/10.1007/bf00485781Test