نتائج البحث

المساهمون: Pediatric surgery, Neuroscience Campus Amsterdam 2008, Other departments, Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Annals of Neurology, 63(4), 473-481. John Wiley and Sons Inc.
Annals of Neurology, 63, 473-81
Annals of neurology, 63(4), 473-481. John Wiley and Sons Inc.
Janssen, A J M, Schuelke, M, Smeitink, J A M, Trijbels, F J M, Sengers, R C A, Lucke, B, Wintjes, L T M, Morava, E, van Engelen, B G M, Smits, B W, Hol, F A, Siers, M H, Ter Laak, H, van der Knaap, M S, van Spronsen, F J, Rodenburg, R J T & van den Heuvel, L P 2008, ' Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system ', Annals of Neurology, vol. 63, no. 4, pp. 473-481 . https://doi.org/10.1002/ana.21328Test
Annals of Neurology, 63(4), 473-481. Wiley
Annals of Neurology, 63, 4, pp. 473-81

مصطلحات موضوعية: Male, Adenosine, genetic structures, Respiratory chain, Mitochondrion, medicine.disease_cause, chemistry.chemical_compound, Mitochondrial myopathy, OXIDATIVE-PHOSPHORYLATION, Perception and Action [DCN 1], MELAS Syndrome, Child, LACTIC-ACIDOSIS, Human Movement & Fatigue [NCEBP 10], Mutation, Middle Aged, Mitochondrial medicine [IGMD 8], Neurology, Biochemistry, Child, Preschool, Lactic acidosis, SKELETAL-MUSCLE, Female, Functional Neurogenomics [DCN 2], psychological phenomena and processes, Adult, Mitochondrial DNA, Guanine, Energy and redox metabolism [NCMLS 4], Adolescent, Oxidative phosphorylation, Biology, DNA, Mitochondrial, behavioral disciplines and activities, COMPLEX-I, TRNA(LEU(UUR)) MUTATION, Genomic disorders and inherited multi-system disorders [IGMD 3], Electron Transport, Translational research [ONCOL 3], medicine, Humans, Muscle, Skeletal, A3243G POINT MUTATION, CLINICAL-FEATURES, STROKE-LIKE EPISODES, Infant, DELAYED DIAGNOSIS, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], TRANSFER RNALEU(UUR) GENE, Mitochondria, Muscle, Genetic defects of metabolism [UMCN 5.1], chemistry, nervous system, Neurology (clinical), Cellular energy metabolism [UMCN 5.3], Energy Metabolism, Adenosine triphosphate

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7309e350811f28f7884ed308e7f876feTest
https://hdl.handle.net/11370/e6d330f9-2287-4630-80cc-c24222097463Test

66

Expression of matrix metalloproteinases-1, -2, and -9; tissue inhibitors of matrix metalloproteinases-1 and -2; cathepsin B; urokinase plasminogen activator; and plasminogen activator inhibitor, type I in skull base chordoma

المؤلفون: Carsten Boltze, Torss-Oliver Schulz, Doerthe Kuester, Christian Herold, Amir Samii, Takahiko Naka, Albert Roessner, Helmut Ostertag

المصدر: Human Pathology. 39:217-223

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Matrix metalloproteinase, Biology, Skull Base Neoplasms, Cathepsin B, Pathology and Forensic Medicine, Immunoenzyme Techniques, Extracellular matrix, Cytokeratin, chemistry.chemical_compound, Plasminogen Activator Inhibitor 1, Biomarkers, Tumor, Chordoma, medicine, Humans, Child, Aged, Activator (genetics), Tissue Inhibitor of Metalloproteinases, Middle Aged, Prognosis, Urokinase-Type Plasminogen Activator, Matrix Metalloproteinases, Neoplasm Proteins, Survival Rate, Skull Base Chordoma, chemistry, Fluorescent Antibody Technique, Direct, Plasminogen activator inhibitor-1, Keratins, Female, Neoplasm Recurrence, Local, Plasminogen activator, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a2fbe11d2eabacd0ad5277eb8af8e6Test
https://doi.org/10.1016/j.humpath.2007.06.005Test

67

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene

المؤلفون: Mirjam M.C. Wamelink, Cornelis Jakobs, Udo F. H. Engelke, Eduard A. Struys, Ron A. Wevers, Elena Levtchenko, Henk J. Blom, Erwin E.W. Jansen, Fokje Zijlstra

المساهمون: Clinical chemistry, Neuroscience Campus Amsterdam 2008, ICaR - Ischemia and repair

المصدر: Human Mutation, 29(4), 532-536. Wiley-Liss Inc.
Human Mutation, 29, 532-6
Human Mutation, 29, 4, pp. 532-6
Wamelink, M M C, Struijs, E A, Jansen, E E W, Levtchenko, E N, Zijlstra, F S M, Engelke, U, Blom, H J, Jakobs, C A J M & Wevers, R A 2008, ' Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene ', Human Mutation, vol. 29, no. 4, pp. 532-536 . https://doi.org/10.1002/humu.20685Test

مصطلحات موضوعية: Adult, Energy and redox metabolism [NCMLS 4], Adolescent, Cystinosis, Genes, Recessive, Biology, Neuroinformatics [DCN 3], Transaldolase deficiency, medicine.disease_cause, Models, Biological, Pentose Phosphate Pathway, chemistry.chemical_compound, Nephropathic Cystinosis, Genetics, medicine, Perception and Action [DCN 1], Humans, Child, Gene, Genetics (clinical), Sequence Deletion, Mutation, Cardiovascular diseases [NCEBP 14], Kinase, Phosphotransferases, Chromosome Mapping, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Heptoses, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Phosphotransferases (Alcohol Group Acceptor), Sedoheptulose, Amino Acid Transport Systems, Neutral, Erythritol, chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], Case-Control Studies, Sedoheptulokinase, Transcription Factors