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101
المؤلفون: Gordon Brauninger, Joseph L. Fleiss, Gerald Cohen, Ronald R. Fieve
المصدر: Journal of psychiatric research. 3(4)
مصطلحات موضوعية: Adult, Male, Paranoid Disorders, medicine.medical_specialty, Enzyme deficiency, Dehydrogenase, In Vitro Techniques, Internal medicine, Medicine, Humans, Psychiatry, Biological Psychiatry, business.industry, Significant difference, Catatonia, Middle Aged, medicine.disease, Black or African American, Psychiatry and Mental health, Endocrinology, Blood, Glucosephosphate Dehydrogenase Deficiency, Schizophrenia, Female, business, Glucose-6-phosphate dehydrogenase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a557afadc64eab3b82de34ed51e40b2eTest
https://pubmed.ncbi.nlm.nih.gov/5866614Test -
102
المؤلفون: C. J. Thompson, B. T. Emmerson, D. C. Wallace
المصدر: Annals of internal medicine. 76(2)
مصطلحات موضوعية: Adult, Male, Heterozygote, Purine-Pyrimidine Metabolism, Inborn Errors, Enzyme deficiency, Erythrocytes, Guanine, Adolescent, Chorea, Intellectual Disability, Internal Medicine, medicine, Humans, Fibroblast, Child, Athetosis, Aged, biology, business.industry, Phosphotransferases, Heterozygote advantage, General Medicine, Middle Aged, medicine.disease, Molecular biology, Uric Acid, medicine.anatomical_structure, Hypoxanthine-guanine phosphoribosyltransferase, Child, Preschool, Hypoxanthines, Mutation, biology.protein, Compulsive Behavior, Self Mutilation, Phosphoribosyltransferase, Female, Lesch–Nyhan syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766df95ce71dad614c20b571543a761cTest
https://pubmed.ncbi.nlm.nih.gov/5009595Test -
103
المؤلفون: Gino Schilirò, Florindo Mollica, Russo G, Lorenzo Pavone
المصدر: Pediatrics. 49(6)
مصطلحات موضوعية: Anemia, Hemolytic, Heterozygote, Enzyme deficiency, Erythrocytes, Anemia, Physiology, Methemoglobin, Sex Factors, Sex factors, G 6 pd deficiency, Medicine, Humans, Reduction test, Child, Sicily, business.industry, Infant, Heterozygote advantage, Favism, medicine.disease, Glucosephosphate Dehydrogenase Deficiency, Child, Preschool, Pediatrics, Perinatology and Child Health, Hemolytic crisis, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e992e7ee174e78a8b3236e2edb94348eTest
https://pubmed.ncbi.nlm.nih.gov/5041319Test -
104
المؤلفون: Ichiro Matsuda, Shinichiro Arashima
المصدر: Biochemical and biophysical research communications. 45(1)
مصطلحات موضوعية: Enzyme deficiency, Biophysics, Ornithine transcarbamylase, Biochemistry, Isozyme, Pi, medicine, Humans, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Ornithine Carbamoyltransferase, Human liver, Chemistry, Isoelectric focusing, Infant, Hyperammonemia, Cell Biology, Hydrogen-Ion Concentration, medicine.disease, Molecular biology, Isoenzymes, Isoelectric point, Liver, Female, Isoelectric Focusing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9795a952b0e02955b71e941045f98427Test
https://pubmed.ncbi.nlm.nih.gov/5139917Test -
105
المؤلفون: Hartmut Pilz
المصدر: Archives of neurology. 27(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Enzyme deficiency, Adolescent, Enzyme defect, Arts and Humanities (miscellaneous), Cerebrosides, Internal medicine, medicine, Leukocytes, Humans, Child, Genetics, Sulfoglycosphingolipids, biology, Adult metachromatic leukodystrophy, Heterozygote advantage, Diffuse Cerebral Sclerosis of Schilder, Middle Aged, Enzyme assay, Pedigree, Endocrinology, Child, Preschool, biology.protein, Female, Neurology (clinical), Sulfatases, Arylsulfatase, Arylsulfatase A activity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f9ecc542e075a0d4344c3d851d5f77bTest
https://pubmed.ncbi.nlm.nih.gov/5049684Test -
106
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, Allergy, Enzyme deficiency, Adolescent, business.industry, Leg Ulcer, Protein C Deficiency, Dermatology, Skin test, Patch Tests, medicine.disease, Immunopathology, Immunology, medicine, Humans, Immunology and Allergy, Female, Drug Eruptions, business, Contact dermatitis, Allergic contact dermatitis, Protein C, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fbe4884aed3850ee52d1c924c29bebbTest
https://doi.org/10.1111/j.1600-0536.1987.tb02679.xTest -
107
المؤلفون: Schwartz Rp, W.K. Hall, Blankenship Pr, R A Roesel
المصدر: Southern Medical Journal. 68:301-302
مصطلحات موضوعية: Adult, Galactosemias, Male, medicine.medical_specialty, Erythrocytes, Enzyme deficiency, Exchange Transfusion, Whole Blood, Hemolysis, Internal medicine, medicine, Humans, Transferase, Confusion, chemistry.chemical_classification, biology, business.industry, Galactosemia, Infant, General Medicine, Uridyl transferase, medicine.disease, Nucleotidyltransferases, Enzyme assay, Enzyme, Endocrinology, chemistry, biology.protein, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770dd6571446e9bb3fd23e1aacc56961Test
https://doi.org/10.1097/00007611-197503000-00010Test -
108
المؤلفون: Stephen H. LaFranchi
المصدر: American Journal of Diseases of Children. 134:1068
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Enzyme deficiency, Adolescent, Natriuresis, Adrenocorticotrophic hormone, Sodium balance, Adrenocorticotropic Hormone, Internal medicine, Long term management, Hydroxyprogesterones, Humans, Medicine, Congenital adrenal hyperplasia, In patient, Pregnanetriol, Child, Prospective cohort study, Glucocorticoids, Adrenal Hyperplasia, Congenital, business.industry, Infant, Newborn, Infant, medicine.disease, Long-Term Care, 17-Ketosteroids, Endocrinology, Child, Preschool, Fludrocortisone, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04f0f3114fee44ef95d75dd9ffa33e2Test
https://doi.org/10.1001/archpedi.1980.02130230048015Test -
109
المؤلفون: T.W. van Weerden, H.F.M. Busch, Johan F. Koster
المصدر: Neurology, 29(3), 415-416. LIPPINCOTT WILLIAMS & WILKINS
مصطلحات موضوعية: Male, Enzyme deficiency, business.industry, Paternal grandfather, media_common.quotation_subject, Age Factors, Infant, Physiology, Middle Aged, Glycogen Storage Disease, Humans, Medicine, Maltase deficiency, Female, Neurology (clinical), Girl, Glucan 1,4-alpha-Glucosidase, business, Glucosidases, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac74997793ca435fd059512b019c35dTest
https://doi.org/10.1212/wnl.29.3.415Test -
110
المؤلفون: Meister A
المصدر: Annals of Internal Medicine. 81:247
مصطلحات موضوعية: Adult, Male, Anemia, Hemolytic, Cell Membrane Permeability, Erythrocytes, Enzyme deficiency, Proline, Glycine, Kidney, Amidohydrolases, Text mining, Glutamates, Internal Medicine, Humans, Medicine, Cysteine, Amino Acids, Peptide Synthases, Amino Acid Metabolism, Inborn Errors, Specific enzyme, business.industry, Infant, Newborn, Infant, gamma-Glutamyltransferase, General Medicine, Glutathione, Pyrrolidonecarboxylic Acid, Biochemistry, Child, Preschool, Female, business, Acyltransferases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb7ba201027d1b09cf447e243fe3be1Test
https://doi.org/10.7326/0003-4819-81-2-247Test