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1دورية أكاديمية
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
مصطلحات موضوعية: Propionic acidemia, PA, Methylmalonic acidemia, MMA, Pathophysiology, Acute metabolic decompensation, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: N M Verhoeven, R J Wanders, D S Schor, G A Jansen, C Jakobs
المصدر: Journal of Lipid Research, Vol 38, Iss 10, Pp 2062-2070 (1997)
مصطلحات موضوعية: Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520371364; https://doaj.org/toc/0022-2275
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المؤلفون: G. Visser, M. Bosma, T. J. de Koning, A. Middendorp, N. M. Verhoeven-Duif, M. Albersen, M. G. M. de Sain-van der Velden, M. van der Ham
المصدر: Analytica Chimica Acta. 712:108-114
مصطلحات موضوعية: Carbon Isotopes, Pyridoxic Acid, Chromatography, Heptafluorobutyric acid, Pyridoxine, Biochemistry, High-performance liquid chromatography, Vitamin B 6, Analytical Chemistry, chemistry.chemical_compound, chemistry, Tandem Mass Spectrometry, Liquid chromatography–mass spectrometry, Isotope Labeling, medicine, Humans, Environmental Chemistry, Vitamer, Protein precipitation, Trichloroacetic Acid, Pyridoxal, Chromatography, High Pressure Liquid, Spectroscopy, medicine.drug
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المؤلفون: Erwin E.W. Jansen, C.A.J.M. Jakobs, H.J. ten Brink, N. M. Verhoeven, D. S. M. Schor, R. J. A. Wanders, E.A. Struys
المصدر: Journal of Lipid Research, Vol 40, Iss 2, Pp 260-266 (1999)
مصطلحات موضوعية: 3-ketopristanic acid, Pristanic acid, Chemical ionization, Chromatography, diagnosis, Chemistry, bifunctional protein, QD415-436, Cell Biology, Peroxisome, medicine.disease, Biochemistry, High-performance liquid chromatography, chemistry.chemical_compound, 2,3-pristenic acid, Endocrinology, Peroxisomal disorder, 3-hydroxypristanic acid, Zellweger syndrome, medicine, Gas chromatography, Gas chromatography–mass spectrometry, Beta oxidation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f6eb2bf9a27828c7015b66ff7276d1c
https://doi.org/10.1016/s0022-2275(20)33365-4 -
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المؤلفون: C.A.J.M. Jakobs, R. J. A. Wanders, Simone Denis, N. M. Verhoeven, G.-J. Romeijn, Gerrit Jansen, H. J. ten Brink
المساهمون: Other departments
المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 1440(2-3), 176-182. Elsevier
مصطلحات موضوعية: Male, Pristanic acid, Phytanic acid, 2-hydroxyphytanoyl-CoA lyase, Biology, Cell Fractionation, Gas Chromatography-Mass Spectrometry, chemistry.chemical_compound, Peroxisomes, Alpha oxidation, Animals, Carbon-Carbon Lyases, Rats, Wistar, Molecular Biology, Aldehydes, Fatty Acids, Cell Biology, Peroxisome, Lyase, Rats, Phytanic Acid, Liver, chemistry, Biochemistry, Rat liver, Cell fractionation, Oxidation-Reduction
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المصدر: Journal of Inherited Metabolic Disease. 21:697-728
مصطلحات موضوعية: chemistry.chemical_classification, Pristanic acid, medicine.medical_specialty, Rhizomelic chondrodysplasia punctata, Phytanic acid, Fatty Acids, Fatty acid, Biology, Peroxisome, medicine.disease, Phytanic Acid, chemistry.chemical_compound, Endocrinology, Refsum disease, Biochemistry, chemistry, Internal medicine, Peroxisomal disorder, Genetics, medicine, Alpha oxidation, Animals, Humans, Oxidation-Reduction, Genetics (clinical)
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المساهمون: Other departments
المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM, 1391(3), 351-356. Elsevier BV
مصطلحات موضوعية: Pristanic acid, Zellweger syndrome, Phytanic acid, Fatty Acids, Biophysics, Fibroblasts, Peroxisome, medicine.disease, Microbodies, Biochemistry, Cell Line, Peroxisomal Disorders, chemistry.chemical_compound, Endocrinology, Refsum disease, chemistry, Multienzyme Complexes, Peroxisomal disorder, medicine, Alpha oxidation, Humans, Oxidation-Reduction, Beta oxidation, Cells, Cultured
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المؤلفون: R. J. A. Wanders, Gerrit Jansen, D. S. M. Schor, N. M. Verhoeven, C. Jakobs
المساهمون: Other departments
المصدر: Journal of Lipid Research, Vol 38, Iss 10, Pp 2062-2070 (1997)
Journal of lipid research, 38(10), 2062-2070. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: Pristanic acid, Zellweger syndrome, Phytanic acid, Decarboxylation, Coenzyme A, Cell Biology, QD415-436, medicine.disease, Biochemistry, chemistry.chemical_compound, Endocrinology, chemistry, medicine, Alpha oxidation, Microsome, NAD+ kinase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3648ff566ca0471a28fab836daccacd2
http://www.sciencedirect.com/science/article/pii/S0022227520371364 -
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المؤلفون: M-H, Read, C, Bonamy, D, Laloum, F, Belloy, J M, Constans, B, Guillois, M-L, Kottler, N M, Verhoeven, C, Jakobs
المصدر: Journal of inherited metabolic disease. 28(6)
مصطلحات موضوعية: Male, Magnetic Resonance Spectroscopy, Cysts, Infant, Newborn, Brain, Brain Diseases, Metabolic, Inborn, Electroencephalography, Stereoisomerism, Magnetic Resonance Imaging, Malonates, Glutarates, Fatal Outcome, Fumarates, Seizures, Humans, Muscle Hypotonia, Female
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المؤلفون: C.A.J.M. Jakobs, Ron J. A. Wanders, D. S. M. Schor, H. J. ten Brink, N. M. Verhoeven, R. M. Kok, Gerbert A. Jansen
المساهمون: Faculteit der Geneeskunde, Other departments
المصدر: Journal of inherited metabolic disease, 20, 441-443. Springer Netherlands
Journal of inherited metabolic disease, 20(3), 441-443. Springer Netherlandsمصطلحات موضوعية: Pristanic acid, Chemical ionization, Zellweger syndrome, Chemistry, Fatty Acids, In Vitro Techniques, Peroxisome, medicine.disease, Cerebrohepatorenal syndrome, Hydrolysis, chemistry.chemical_compound, Adenosine Triphosphate, Liver, Biochemistry, Peroxisomal disorder, Fatty Acids, Unsaturated, Genetics, medicine, Humans, Coenzyme A, Magnesium, Gas chromatography, Zellweger Syndrome, Oxidation-Reduction, Genetics (clinical)
وصف الملف: application/pdf