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المؤلفون: R. Rodney Howell, Barbara Brown, Michael M. Kaback
المصدر: The Journal of Pediatrics. 78:638-642
مصطلحات موضوعية: Male, medicine.medical_specialty, Branching enzyme deficiency, Autosomal recessive inheritance, Amniotic fluid cells, Infant, Genes, Recessive, Fibroblasts, Biology, Glycogen Storage Disease, Heterozygote Detection, Endocrinology, Biochemistry, Glucosyltransferases, Culture Techniques, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, Branching enzyme activity, Normal skin, Type iv glycogen storage disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c5ea8f5cf6b018730865f13dbfd03c0Test
https://doi.org/10.1016/s0022-3476Test(71)80466-3 -
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المؤلفون: Linda K. Rames, Robert L. Jensen, Robert J. Roberts, Jean E. Robillard
المصدر: The Journal of Pediatrics. 88:79-81
مصطلحات موضوعية: Intrauterine Diagnosis, medicine.medical_specialty, Enzyme deficiency, Organomercury Compounds, Mercurial diuretic, business.industry, medicine.medical_treatment, Pediatric research, Carrier state, Infant, Diagnostic amniocentesis, Mercury, Disease, Peritoneal dialysis, Internal medicine, Mercury Poisoning, Pediatrics, Perinatology and Child Health, medicine, Ascitic Fluid, Humans, Dimercaprol, Female, business, Peritoneal Dialysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb7fb22f7608462dc05b52e7f1da0e3aTest
https://doi.org/10.1016/s0022-3476Test(76)80733-0 -
83
المؤلفون: Minutolo, Carolina, Charreau, Eduardo Hernán
مصطلحات موضوعية: corticotropin, hydroxyprogesterone, steroid 21 monooxygenase, steroid hormone, adrenal gland, allele, Argentina, article, chromosome analysis, clinical article, congenital adrenal hyperplasia, controlled study, enzyme deficiency, female, gene, gene amplification, gene frequency, genotype phenotype correlation, heterozygote, hormone determination, human, intron, male, mutation rate, parent, point mutation, prevalence, priority journal, salt losing nephritis, sibling
العلاقة: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03000664_v56_n2_p239_DainTest; http://hdl.handle.net/20.500.12110/paper_03000664_v56_n2_p239_DainTest
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84
المؤلفون: Klaus Harzer
المصدر: Clinica chimica acta; international journal of clinical chemistry. 106(1)
مصطلحات موضوعية: Ceramide, Enzyme deficiency, Clinical Biochemistry, Spleen, Biochemistry, chemistry.chemical_compound, Pregnancy, Prenatal Diagnosis, medicine, Humans, Sodium Cholate, Fetus, Gaucher Disease, Biochemistry (medical), Substrate (chemistry), General Medicine, Clinical Enzyme Tests, medicine.disease, medicine.anatomical_structure, Gaucher's disease, chemistry, Pregnancy Trimester, Second, Glucosylceramidase, Female, Glucocerebrosidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1a8c69177329c35b72c77ffb872b78cTest
https://pubmed.ncbi.nlm.nih.gov/7408211Test -
85
المصدر: Revista do Instituto de Medicina Tropical de São Paulo, Volume: 27, Issue: 5, Pages: 264-267, Published: OCT 1985
Revista do Instituto de Medicina Tropical de São Paulo, Vol 27, Iss 5, Pp 264-267 (1985)مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Anemia, Hemolytic, Enzyme deficiency, lcsh:Arctic medicine. Tropical medicine, Adolescent, lcsh:RC955-962, Biology, Glucose-6-phosphate deficiency, chemistry.chemical_compound, Internal medicine, Spider Bites, medicine, Humans, Child, General Medicine, medicine.disease, Hemolysis, Loxoscelism, Surgery, Sting, Red blood cell, Infectious Diseases, medicine.anatomical_structure, Endocrinology, Glucosephosphate Dehydrogenase Deficiency, Glucose 6-phosphate, chemistry, Female
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d3e455d990f8fc20680b15c75342ecTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0036-46651985000500006&lng=en&tlng=enTest -
86
المؤلفون: J Tóth, M. Berényi, P Szönyi
المصدر: International urology and nephrology. 17(3)
مصطلحات موضوعية: Purine, endocrine system, medicine.medical_specialty, Enzyme deficiency, Urology, Allopurinol, Adenine phosphoribosyltransferase, Adenine Phosphoribosyltransferase, Adenine phosphoribosyltransferase deficiency, Kidney Calices, Adenine metabolism, chemistry.chemical_compound, Kidney Calculi, Internal medicine, medicine, Humans, Pentosyltransferases, Genetics, business.industry, Adenine, medicine.disease, Endocrinology, chemistry, Nephrology, Child, Preschool, Female, business, 2,8-Dihydroxyadenine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f822ccc38f6a3f1e393ceca25cccb16fTest
https://pubmed.ncbi.nlm.nih.gov/4086237Test -
87
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 -
88
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 -
89
المؤلفون: D E Paterson, G Harper, H J Weston, J Mattingley
المصدر: The British journal of radiology. 55(659)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Enzyme deficiency, Adolescent, Disease, Diagnosis, Differential, medicine, Humans, Radiology, Nuclear Medicine and imaging, Mild form, Pelvic Bones, Leg, Mucopolysaccharidosis VI, business.industry, General Medicine, Humerus, Mucopolysaccharidoses, medicine.disease, Hand, Spine, Maroteaux–Lamy syndrome, Radiography, Female, Differential diagnosis, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1821f78161dd6687227127e9c2fda71eTest
https://pubmed.ncbi.nlm.nih.gov/6814560Test -
90
المؤلفون: Jill Trice, John Grauerholz, Mary Ambler, Patricia A. O'Shea
المصدر: Neurology. 33(4)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Enzyme deficiency, Disease, Bone and Bones, Neuronal Ceroid-Lipofuscinoses, Parenchyma, medicine, Humans, Neurons, Tay-Sachs Disease, business.industry, Brain Diseases, Metabolic, Infant, Newborn, Brain, Infant, Osteopetrosis, medicine.disease, Skull, medicine.anatomical_structure, Primary bone, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::376938cf5431dea0482aa69edc4f230bTest
https://pubmed.ncbi.nlm.nih.gov/6682191Test