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2كتاب
المساهمون: Salomons, Gajja S., Wyss, Markus.
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المؤلفون: Salih Hattapoğlu, Sadullah Şimşek, Faysal Ekici
المساهمون: Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Radyoloji Ana Bilim Dalı, Şimşek, Sadullah, Hattapoğlu, Salih, Ekici, Faysal
المصدر: Journal of Pediatric Neurology. 20:392-394
مصطلحات موضوعية: 0301 basic medicine, MRS, medicine.medical_specialty, Guanidinoacetate methyltransferase, SLC6A8, 030105 genetics & heredity, Creatine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, business.industry, Brain, Nuclear magnetic resonance spectroscopy, Metabolic pathway, Creatine synthesis, Creatine biosynthesis, Endocrinology, chemistry, Carrier protein, Pediatrics, Perinatology and Child Health, Deficiency, Neurology (clinical), Creatine deficiency, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509303970566ac044a5d37a42d933660
https://doi.org/10.1055/s-0041-1726311 -
4دورية أكاديمية
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5دورية أكاديمية
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6دورية أكاديمية
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المؤلفون: Sergej M. Ostojic
المصدر: European Journal of Nutrition. 54:1211-1215
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Nutrition and Dietetics, Arginine, Insulin, medicine.medical_treatment, Glycine, nutritional and metabolic diseases, Medicine (miscellaneous), Human physiology, Biology, Pharmacology, Creatine, Neuromodulation (medicine), Diet, chemistry.chemical_compound, Human nutrition, Creatine biosynthesis, chemistry, Biochemistry, Dietary Supplements, medicine, Humans, Energy Metabolism, Hormone
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8دورية أكاديمية
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المؤلفون: Olivier Braissant, Hugues Henry, Céline Torrent, Elidie Béard
المصدر: Neurobiology of Disease, Vol 37, Iss 2, Pp 423-433 (2010)
Neurobiology of Disease, vol. 37, no. 2, pp. 423-433
Neurobiology of diseaseمصطلحات موضوعية: Central Nervous System, Amidinotransferases, medicine.medical_specialty, Central nervous system, Glycine, Cell Count, Nerve Tissue Proteins, In situ hybridization, Biology, Creatine, Plasma Membrane Neurotransmitter Transport Proteins, Brain mapping, Brain Cell, lcsh:RC321-571, Rats, Sprague-Dawley, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Amidinotransferases/genetics, Amidinotransferases/metabolism, Animals, Brain Diseases, Metabolic, Inborn/metabolism, Brain Diseases, Metabolic, Inborn/pathology, Brain Mapping, Cells, Cultured, Central Nervous System/metabolism, Central Nervous System/pathology, Creatine/biosynthesis, Creatine/deficiency, Glycine/analogs & derivatives, Glycine/metabolism, Guanidinoacetate N-Methyltransferase/genetics, Guanidinoacetate N-Methyltransferase/metabolism, Immunohistochemistry, In Situ Hybridization, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, Neurons/metabolism, Neurons/pathology, Plasma Membrane Neurotransmitter Transport Proteins/genetics, Plasma Membrane Neurotransmitter Transport Proteins/metabolism, RNA, Messenger/analysis, RNA, Messenger/metabolism, Rats, Syndrome, medicine, RNA, Messenger, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, Neurons, Guanidinoacetate, 0303 health sciences, Brain Diseases, Metabolic, Inborn, Brain, Guanidinoacetate N-methyltransferase, medicine.anatomical_structure, Endocrinology, Neurology, chemistry, Biochemistry, Rat, Guanidinoacetate N-Methyltransferase, Creatine deficiency, Creatine Deficiency syndromes, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: J. Hayek, Monique J. B. M. Veendrick-Meekes, Maria Tassini, Raffaella Zannolli, Maaike de Vries, Appie Bilos, Gianni Valensin, Ron A. Wevers, Eva Morava, Udo F. H. Engelke, Leo A. J. Kluijtmans, Antonio Vivi, Wim Brussel, Sabrina Buoni, Berry Kremer, Gajja S. Salomons
المساهمون: Internal Medicine Specializations, Clinical chemistry, Other Research
المصدر: Engelke, U F H, Tassini, M, Hayek, J, de Vries, M, Bilos, A, Vivi, A, Valensin, G, Buoni, S, Zannolli, R, Brussel, W, Kremer, B, Salomons, G S, Veendrick-Meekes, M J B M, Kluijtmans, L A J, Morava, E & Wevers, R A 2009, ' Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids ', NMR in Biomedicine, vol. 22, no. 5, pp. 538-544 . https://doi.org/10.1002/nbm.1367
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44مصطلحات موضوعية: Adult, Male, Magnetic Resonance Spectroscopy, creatine biosynthesis, Energy and redox metabolism [NCMLS 4], Glycine, Membrane transport and intracellular motility [NCMLS 5], L-arginine, in vitro (1)H NMR spectroscopy, Urine, Creatine, guanidinoacetate methyltransferase, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Cerebrospinal fluid, Reference Values, guanidino-acetic acid, glycine amidinotransferase, Humans, Radiology, Nuclear Medicine and imaging, Child, Spectroscopy, Creatinine, Chromatography, creatinine, Infant, Nuclear magnetic resonance spectroscopy, Hydrogen-Ion Concentration, Glycostation disorders [IGMD 4], Body Fluids, Guanidinoacetate N-methyltransferase, NMR spectra database, creatine, chemistry, Child, Preschool, Proton NMR, Molecular Medicine, Female, Guanidinoacetate N-Methyltransferase, Protons, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf; Print
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