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المؤلفون: Wolfgang Grodd, Thomas Nägele, Klaus Marquard, Ingeborg Krägeloh-Mann, Wim Ruitenbeek, Martin Schöning
المصدر: Developmental medicine and child neurology. 35(9)
مصطلحات موضوعية: Male, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Developmental Disabilities, Pyruvate Dehydrogenase Complex, Nucleus Caudatus, Brain tissue, Basal Ganglia, Diagnosis, Differential, Developmental Neuroscience, medicine, Humans, Leigh disease, Radionuclide Imaging, Csf lactate, Gynecology, Brain Diseases, business.industry, Non invasive, Brain, Infant, medicine.disease, Proton mr spectroscopy, Mitochondria, Child, Preschool, Pediatrics, Perinatology and Child Health, Lactates, Acidosis, Lactic, Female, Neurology (clinical), Serum lactate, Leigh Disease, business, Mitochondrial Enzyme Deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83a7a912080c6dd63ccd8b66c1650d5dTest
https://pubmed.ncbi.nlm.nih.gov/7926334Test -
62
المؤلفون: Ziad Rifai, Sara Shanske, George Karpati, Claudio Bruno, David McKee, Salvatore DiMauro, Richard J. Barohn, Serenella Servidei, Stirling Carpenter, Michio Hirano
المصدر: Annals of neurology. 33(1)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Polymers, Biopsy, Carbohydrate metabolism, Degenerative disease, Sural Nerve, 1,4-alpha-Glucan Branching Enzyme, medicine, Humans, Glycogen storage disease type IV, Pathological, Aged, chemistry.chemical_classification, Aged, 80 and over, medicine.diagnostic_test, business.industry, Muscles, Adult polyglucosan body disease, Middle Aged, medicine.disease, humanities, Axons, Glycogen Branching Enzyme Deficiency, Enzyme, Glucose, Neurology, chemistry, Female, Neurology (clinical), Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4052665ec00fdb3b750cfe73e5e9e8dTest
https://pubmed.ncbi.nlm.nih.gov/8494336Test -
63
المؤلفون: Hyeon Jin Park, Byung Kiu Park, Yeon Jung Lim, Thad T. Ghim, Sun-Young Kong, Jeong A Park
المصدر: Journal of Korean Medical Science
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Erythrocytes, Cell Therapy & Organ Transplantation, Bone marrow transplantation, Anemia, Enolase, Erythrocyte Enzyme Deficiency, Bone Marrow Cells, Case Report, hemic and lymphatic diseases, medicine, Humans, Transplantation, Homologous, Diamond–Blackfan anemia, Autogenous bone, Child, Anemia, Diamond-Blackfan, Bone Marrow Transplantation, Red Cell Enolase Deficiency, Red Cell, Marrow transplantation, business.industry, Enolase deficiency, Infant, General Medicine, medicine.disease, Child, Preschool, Phosphopyruvate Hydratase, Immunology, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c561b107d10477139759a3ed735701Test
https://doi.org/10.3346/jkms.2010.25.4.626Test -
64
المؤلفون: H. J. Böhme, P. Bührdel, L. Didt
المصدر: European journal of pediatrics. 149(8)
مصطلحات موضوعية: Fructose-1,6-Diphosphatase Deficiency, Male, medicine.medical_specialty, Enzyme deficiency, medicine.medical_treatment, Exchange transfusion, Physiology, Infant, Premature, Diseases, Fructose Metabolism, Inborn Errors, Hyperbilirubinemia, Hereditary, Internal medicine, medicine, Fructose 1 6 diphosphatase, Leukocytes, Humans, biology, business.industry, Gluconeogenesis, Infant, Newborn, Infant, Enzyme assay, Hypoglycemia, Endocrinology, Fructose metabolism, Liver, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e52b19357d99bbfe51339146afcb13Test
https://pubmed.ncbi.nlm.nih.gov/2347355Test -
65
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 -
66
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 -
67
المؤلفون: K.Bryan Trimmer, Jack B. Alperin, Gordon C. Mills
المصدر: Biochemical Medicine. 13:264-275
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Erythrocytes, Enzyme deficiency, Dehydrogenase, Glucosephosphate Dehydrogenase, Biology, Biochemistry, chemistry.chemical_compound, Drug Stability, In vivo, hemic and lymphatic diseases, Humans, Temperature, Genetic Variation, nutritional and metabolic diseases, Hydrogen-Ion Concentration, New variant, Texas, Kinetics, Chronic hemolytic anemia, Glucose 6-phosphate, chemistry, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a42eed3d6b7a28a5c3d0d5353d8366f2Test
https://doi.org/10.1016/0006-2944Test(75)90084-8 -
68
المؤلفون: R F Macadam, D I McCallum, A W Johnston
المصدر: Journal of Medical Genetics. 17:21-26
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Enzyme deficiency, Adolescent, Mucopolysaccharidosis, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Research article, Child, Genetics (clinical), Skin, business.industry, Mucopolysaccharidoses, medicine.disease, Fabry disease, Galactosidases, Angiokeratoma, Microscopy, Electron, Endocrinology, Fabry Disease, Female, Lysosomes, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0791098e186ec0d9300368cda0fc503Test
https://doi.org/10.1136/jmg.17.1.21Test -
69
المؤلفون: Handa Shizuo, Suzuki Yoshiyuki, Wey Jau Jinn, Fukuoka Kazuko
المصدر: Clinica Chimica Acta. 75:91-97
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Enzyme deficiency, Adolescent, Clinical Biochemistry, Disease, Biochemistry, Glycosaminoglycan, Mucolipidoses, Internal medicine, Leukocytes, medicine, Humans, Child, biology, Biochemistry (medical), Infant, General Medicine, Mucopolysaccharidoses, Enzyme assay, Galactosidases, Endocrinology, Liver, Child, Preschool, biology.protein, Female, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf947bdee8dd2205d00ea708200f4d1Test
https://doi.org/10.1016/0009-8981Test(77)90503-4 -
70
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