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1
المؤلفون: Milan Elleder, Guy T.N. Besley, Sylke Maas, Dietrich Seidel, Pia Lohse, Peter Lohse, Jean M Kirk
المصدر: Journal of Lipid Research, Vol 41, Iss 1, Pp 23-31 (2000)
مصطلحات موضوعية: Male, Heterozygote, Hyperlipoproteinemias, Recombinant Fusion Proteins, genotype, QD415-436, Biology, Lysosomal acid lipase deficiency, Compound heterozygosity, medicine.disease_cause, Biochemistry, Exon, Endocrinology, lipid metabolism, medicine, Lysosomal storage disease, Humans, Child, DNA Primers, Genetics, Mutation, Base Sequence, Cholesterol Ester Storage Disease, Point mutation, Wolman Disease, Cell Biology, Cholesterol ester storage disease, Exons, medicine.disease, Molecular biology, Exon skipping, lysosomal storage disease, Child, Preschool, Splenomegaly, Female, enzyme deficiency, point mutation, Polymorphism, Restriction Fragment Length, Hepatomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b283630297d6fa76351e3f4336c78f43Test
http://www.sciencedirect.com/science/article/pii/S0022227520320708Test -
2دورية أكاديمية
المؤلفون: Dain, L.B., Buzzalino, N.D., Oneto, A., Belli, S., Stivel, M., Pasqualini, T., Minutolo, C., Charreau, E.H., Alba, L.G.
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
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3
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 -
4
المؤلفون: M. A. Crawfurd
المصدر: Journal of Inherited Metabolic Disease. 5:153-163
مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, X Chromosome, Enzyme deficiency, Placenta, Urinary system, Steroid sulphatase deficiency, Disease, Biology, Lipid Metabolism, Inborn Errors, Excretion, Gene Frequency, Pregnancy, Dosage Compensation, Genetic, Internal medicine, Genetics, medicine, Humans, Gene, Genetics (clinical), X-linked ichthyosis, Infant, Newborn, Chromosome Mapping, Ichthyosis, Dihydrotestosterone, Fibroblasts, medicine.disease, Human genetics, Pedigree, Endocrinology, Gene Expression Regulation, Female, Steryl-Sulfatase, Cholesterol Esters, Sulfatases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0374482041504b9ea3ac480cee7bc06Test
https://doi.org/10.1007/bf01800171Test -
5
المؤلفون: P V Nelson, A C Pollard, W F Carey
المصدر: Australian Journal of Experimental Biology and Medical Science. 55:253-262
مصطلحات موضوعية: Heterozygote, Enzyme deficiency, Hydrolases, business.industry, Homozygote, Clinical Biochemistry, Immunology, Infant, Physiology, Cell Biology, General Medicine, Clinical Enzyme Tests, Fibroblasts, Amniotic Fluid, Cell Line, Sphingolipidoses, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Female, Lysosomes, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4060ee5ffe2192817f9a360270be9664Test
https://doi.org/10.1038/icb.1977.20Test -
6
المؤلفون: Frank J. Gareis, Peter A. Lee
المصدر: The Journal of Clinical Endocrinology & Metabolism. 41:415-418
مصطلحات موضوعية: Adult, Male, Heterozygote, endocrine system, Synthetic ACTH, medicine.medical_specialty, Adrenocortical Hyperfunction, Time Factors, Enzyme deficiency, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, Endocrinology, Adrenocorticotropic Hormone, Internal medicine, Infusion Procedure, Cosyntropin, Hydroxyprogesterones, medicine, Humans, Congenital adrenal hyperplasia, Child, Acth stimulation, Adrenal Hyperplasia, Congenital, biology, business.industry, Biochemistry (medical), 21-Hydroxylase, Heterozygote advantage, medicine.disease, Pedigree, Steroid Hydroxylases, biology.protein, Female, business, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45a2cfc00037bb748f2c9091b2a15389Test
https://doi.org/10.1210/jcem-41-2-415Test -
7
المؤلفون: Brian D. Lake
المصدر: Journal of Clinical Pathology. 24:617-620
مصطلحات موضوعية: Male, Heterozygote, Pathology, medicine.medical_specialty, Enzyme deficiency, Biology, Lipidoses, Intermediate level, Histochemical staining, Pathology and Forensic Medicine, Pregnancy, Xanthomatosis, medicine, Humans, Lymphocytes, Acid esterase deficiency, Wolman's disease, Acid Esterase, Membranes, Histocytochemistry, Esterases, food and beverages, Heterozygote advantage, Articles, General Medicine, Fetal Diseases, Microscopy, Electron, Clinical diagnosis, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::262cd9ceaee4810ae601570e04b155eaTest
https://doi.org/10.1136/jcp.24.7.617Test -
8
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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9
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 -
10
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