نتائج البحث - "Glycostation disorders [IGMD 4]"

1

The Impact of Delayed Storage on the Measured Proteome and Metabolome of Human Cerebrospinal Fluid

المؤلفون: Therese Rosenling, Alain J. van Gool, Sybren S. Wijmenga, Rob J. Vreeken, Bas Muilwijk, Adrie Dane, Theo M. Luider, Lutgarde M. C. Buydens, Peter Horvatovich, Shanna Shi, Christin Christin, Agnieszka Smolinska, Marcel P. Stoop, Thomas Hankemeier, Frank Suits, Rainer Bischoff, Leon Coulier

المساهمون: Neurology, Epidemiology, Molecular Genetics, Analytical Biochemistry, Groningen Research Institute of Pharmacy, Medicinal Chemistry and Bioanalysis (MCB)

المصدر: Clinical Chemistry, 57(12), 1703-1711. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 57, 1703-1711
Clinical Chemistry, 57, 12, pp. 1703-11
Clinical Chemistry, 57(12), 1703-1711. AMER ASSOC CLINICAL CHEMISTRY
Clinical Chemistry, 57, 12, pp. 1703-1711
Clinical Chemistry, 57, 1703-11
Clinical Chemistry, 12, 57, 1703-1711

مصطلحات موضوعية: Chromatography, Gas, Magnetic Resonance Spectroscopy, Time Factors, Proteome, Metabolite, BLOOD-SERUM, Clinical Biochemistry, CSF, Mass Spectrometry, Specimen Handling, Analytical Chemistry, chemistry.chemical_compound, Blood serum, Metabolomics, SDG 3 - Good Health and Well-being, EELS - Earth, Environmental and Life Sciences TNO Bedrijven, CYSTATIN-C, Metabolome, Humans, QS - Quality & Safety AR - Analytical Research, Cerebrospinal Fluid, Nutrition, Chromatography, STABILITY, Chemistry, Biochemistry (medical), Selected reaction monitoring, Life Triskelion BV, MULTIPLE-SCLEROSIS, MASS-SPECTROMETRY, Glycostation disorders [IGMD 4], Ascorbic acid, BIOMARKER DISCOVERY, Biochemistry, ASCORBIC-ACID, NMR-SPECTROSCOPY, Sample collection, Biophysical Chemistry, LIQUID-CHROMATOGRAPHY, Functional Neurogenomics [DCN 2], Healthy Living, Chromatography, Liquid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45f237008644d12dc3fd3a14f8fa34deTest
https://doi.org/10.1373/clinchem.2011.167601Test

2

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

المؤلفون: Eva Morava, Jolein Gloerich, Maïlys Guillard, Dirk J. Lefeber, Hans J. C. T. Wessels, Ron A. Wevers

المصدر: Carbohydrate Research, 344, 1550-7
Carbohydrate Research, 344, 12, pp. 1550-7

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f73776c4cffbee8292788aa7cc9b40Test
https://hdl.handle.net/2066/80369Test

3

Muscle 3243A -> G mutation load and capacity of the mitochondrial energy-generating system

المؤلفون: Bart W. Smits, Baziel G. M. van Engelen, Rob C.A. Sengers, Jan A.M. Smeitink, Marjo S. van der Knaap, Marloes H. Siers, Richard J. Rodenburg, Frans J.M. Trijbels, Francjan J. van Spronsen, Liesbeth T. Wintjes, Markus Schuelke, Barbara Lucke, Eva Morava, Henk J. ter Laak, Antoon J.M. Janssen, Lambert P. van den Heuvel, Frans A. Hol

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

4

Proteomics Approaches to Study Genetic and Metabolic Disorders

المؤلفون: Baziel G.M. van Engelen, Jolein Gloerich, Ron A. Wevers, Jan A.M. Smeitink, Lambert P. van den Heuvel

المصدر: Journal of Proteome Research, 6, 506-12
Journal of Proteome Research, 6, 2, pp. 506-12

مصطلحات موضوعية: Genetic Markers, Proteomics, Energy and redox metabolism [NCMLS 4], Neuroinformatics [DCN 3], Biology, medicine.disease_cause, Biochemistry, Protein–protein interaction, Genomic disorders and inherited multi-system disorders [IGMD 3], Metabolic Diseases, Functional proteomics, Translational research [ONCOL 3], Perception and Action [DCN 1], medicine, Humans, Electrophoresis, Gel, Two-Dimensional, Human Movement & Fatigue [NCEBP 10], Genetics, Mutation, Genetic Diseases, Inborn, Proteins, General Chemistry, Glycostation disorders [IGMD 4], Neuromuscular development and genetic disorders [UMCN 3.1], Protein profiling, Mitochondrial medicine [IGMD 8], Genetic marker, Identification (biology), Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2], Function (biology)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d496020fdfeb10f94d6e85001ae0fd9Test
https://doi.org/10.1021/pr060487wTest

5

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

المؤلفون: Frans J.M. Trijbels, Liesbeth T. Wintjes, Wim Ruitenbeek, Antoon J.M. Janssen, Lambert P. van den Heuvel, Richard J. Rodenburg, Rob C.A. Sengers, Jan A.M. Smeitink, Eva Morava, Baziel G.M. van Engelen

المصدر: Clinical Chemistry, 52, 860-71
Clinical Chemistry, 52, 5, pp. 860-71

مصطلحات موضوعية: Adult, Male, Pyruvate decarboxylation, Mitochondrial Diseases, Pyruvate dehydrogenase kinase, Energy and redox metabolism [NCMLS 4], Adolescent, Biopsy, Clinical Biochemistry, Malates, Succinic Acid, Pyruvate Dehydrogenase Complex, Pyruvate dehydrogenase phosphatase, Biology, Oxidative Phosphorylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Adenosine Triphosphate, Translational research [ONCOL 3], Carnitine, Pyruvic Acid, Humans, Carbon Radioisotopes, Dihydrolipoyl transacetylase, Child, Muscle, Skeletal, Human Movement & Fatigue [NCEBP 10], Biochemistry (medical), Glycostation disorders [IGMD 4], Pyruvate dehydrogenase complex, Neuromuscular development and genetic disorders [UMCN 3.1], Malonates, Mitochondria, Pyruvate carboxylase, Citric acid cycle, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Child, Preschool, Female, Pyruvic acid, Cellular energy metabolism [UMCN 5.3], Energy Metabolism, Functional Neurogenomics [DCN 2], Mitochondrial ADP, ATP Translocases, Oxidation-Reduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f25756668e3dc458d21c7e61b2642028Test
https://doi.org/10.1373/clinchem.2005.062414Test

6

Serial Isoelectric Focusing as an Effective and Economic Way to Obtain Maximal Resolution and High-Throughput in 2D-Based Comparative Proteomics of Scarce Samples: Proof-of-Principle

المؤلفون: Lambert P. van den Heuvel, Murtada H Farhoud, Baziel G.M. van Engelen, Jan A.M. Smeitink, Hans J. C. T. Wessels, Ron A. Wevers

المصدر: Journal of Proteome Research, 4, 2364-8
Journal of Proteome Research, 4, 6, pp. 2364-8

مصطلحات موضوعية: Proteomics, Proteome, Energy and redox metabolism [NCMLS 4], Resolution (mass spectrometry), Computer science, Sample (material), STRIPS, Neuroinformatics [DCN 3], Biochemistry, law.invention, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], law, Perception and Action [DCN 1], Humans, Narrow range, Electrophoresis, Gel, Two-Dimensional, Isoelectric Point, Throughput (business), Human Movement & Fatigue [NCEBP 10], Chromatography, Isoelectric focusing, Myocardium, Temperature, Proteins, General Chemistry, Hydrogen-Ion Concentration, Glycostation disorders [IGMD 4], Neuromuscular development and genetic disorders [UMCN 3.1], Mitochondria, Mitochondrial medicine [IGMD 8], Proof of concept, Indicators and Reagents, Isoelectric Focusing, Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2], Algorithm

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4857eb3a84fa69eaac48efa76da57502Test
https://doi.org/10.1021/pr050231aTest

7

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

المؤلفون: H. Zweers van Essen, Saskia B. Wortmann, Eva Morava, R. Liebrand van Sambeek, O. P. van Diggelen, Ron A. Wevers

المساهمون: Clinical Genetics

المصدر: Journal of Inherited Metabolic Disease, 28, 5, pp. 703-6
Journal of Inherited Metabolic Disease, 28, 703-6
Journal of Inherited Metabolic Disease, 28(5), 703-706. Springer Netherlands

مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Erythrocytes, Energy and redox metabolism [NCMLS 4], Phosphorylase Kinase, Butanols, Urinary system, Oligosaccharides, 1-Propanol, Urine, Neuroinformatics [DCN 3], Biology, Biochemistry, High cholesterol, Genomic disorders and inherited multi-system disorders [IGMD 3], Excretion, Hemoglobins, chemistry.chemical_compound, Glucosides, Internal medicine, Perception and Action [DCN 1], Genetics, medicine, Humans, Glycogen storage disease, Phosphorylase kinase, Genetics (clinical), Family Health, Triglyceride, Glycostation disorders [IGMD 4], Glycogen Storage Disease, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Quality of Care [EBP 4], Mitochondrial medicine [IGMD 8], Cholesterol, Endocrinology, Genetic defects of metabolism [UMCN 5.1], chemistry, Female, lipids (amino acids, peptides, and proteins), Chromatography, Thin Layer, Growth delay, Functional Neurogenomics [DCN 2], Blood Chemical Analysis