-
1
المؤلفون: Sofie Symoens, Marcella Greco, Francesco Emma, François Nobili, Koen Desmet, Elisabeth A.M. Cornelissen, Lambertus van den Heuvel, Elena Levtchenko, Fransiska Malfait, Marc R. Lilien, Jerry A. Schneider, Anne De Paepe, Mirian C. H. Janssen, Flemming Skovby, Martine T.P. Besouw
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: Journal of Pediatrics, 163, 3, pp. 754-60
Journal of Pediatrics, 163, 754-60
Journal of Pediatrics, 163(3), 754-760. MOSBY-ELSEVIERمصطلحات موضوعية: Male, CROSS-LINKING, Cystinosis, PENICILLAMINE, Renal Agents, THERAPY, NEPHROPATHIC CYSTINOSIS, DISEASE, Protein-Lysine 6-Oxidase, chemistry.chemical_compound, HUMAN NEUROLATHYRISM, LYSYL OXIDASE, Child, Cation Transport Proteins, Copper Transporter 1, Renal disorder [IGMD 9], Adenosine Triphosphatases, biology, Ceruloplasmin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Renal disorder Membrane transport and intracellular motility [IGMD 9], Child, Preschool, Toxicity, Female, Collagen, Adult, Genetic Markers, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Cysteamine, Lysyl oxidase, METABOLISM, Protective Agents, Renal disorder Energy and redox metabolism [IGMD 9], Collagen Type I, Young Adult, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Health aging / healthy living Cardiovascular diseases [IGMD 5], Polymorphism, Genetic, business.industry, Fanconi syndrome, ADULTS, Sequence Analysis, DNA, Fanconi Syndrome, medicine.disease, Collagen Type I, alpha 1 Chain, Endocrinology, chemistry, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, biology.protein, business, Copper deficiency, Biomarkers, Copper
-
2
المصدر: Drug Discovery Today, 18, 15-16, pp. 785-92
Drug Discovery Today, 18, 785-92مصطلحات موضوعية: Drug, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], media_common.quotation_subject, Cysteamine, Cystine, Radiation-Protective Agents, CHILDREN, Pharmacology, Renal disorder Energy and redox metabolism [IGMD 9], THERAPY, NEPHROPATHIC CYSTINOSIS, TOXICITY, chemistry.chemical_compound, In vivo, Cystamine, Nephropathic Cystinosis, Non-alcoholic Fatty Liver Disease, Internal medicine, Drug Discovery, Nonalcoholic fatty liver disease, medicine, Animals, Humans, media_common, Randomized Controlled Trials as Topic, FATTY LIVER-DISEASE, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Neurodegenerative Diseases, medicine.disease, CYSTAMINE, Fatty Liver, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, Membrane transport and intracellular motility Renal disorder [NCMLS 5], BDNF, chemistry, Cystinosis, HUNTINGTONS-DISEASE, GROWTH, INDUCED LUPUS
-
3
المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber
المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom
وصف الملف: application/pdf
-
4
المؤلفون: Lambert P. van den Heuvel, Dineke Westra, Paul P. T. Brons, Auke Beishuizen, Nicole C. A. J. van de Kar, Eiske M. Dorresteijn
المساهمون: Pediatrics
المصدر: Pediatric Nephrology, 28, 349-352. Springer-Verlag
Pediatric Nephrology, 28, 349-52
Pediatric Nephrology, 28, 2, pp. 349-52مصطلحات موضوعية: Nephrology, Male, medicine.medical_specialty, Thrombotic microangiopathy, Age-related aspects of cancer [ONCOL 2], Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Disease, Constriction, Pathologic, Anuria, Hemophilia A, Renal disorder Energy and redox metabolism [IGMD 9], Pathogenesis, Ileus, Internal medicine, hemic and lymphatic diseases, medicine, Humans, Escherichia coli Infections, Renal disorder [IGMD 9], Factor VIII, Sigmoid Diseases, Shiga-Toxigenic Escherichia coli, business.industry, Coagulants, Genetic disorder, Acute kidney injury, Infant, Newborn, Rectum, Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Plasmapheresis, medicine.disease, Renal disorder Membrane transport and intracellular motility [IGMD 9], Treatment Schedule, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Hemolytic-Uremic Syndrome, Epilepsy, Tonic-Clonic, Hemofiltration, Hemorrhagic colitis, business, Gastrointestinal Hemorrhage
-
5
المؤلفون: Henricus A. M. Mutsaers, Jitske Jansen, L.P.W.J. van den Heuvel, Raymond Vanholder, Martijn J. Wilmer, Eva Schepers, Marleen Forkink, P.H.H. van den Broek, Griet Glorieux, Rosalinde Masereeuw, Joost G. J. Hoenderop, Dorien Reijnders
المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1832, 1, pp. 142-50
Mutsaers, H A M, Wilmer, M J G, Reijnders, D, Jansen, J, van den Broek, P H H, Forkink, M, Schepers, E, Glorieux, G, Vanholder, R, van den Heuvel, L P, Hoenderop, J G & Masereeuw, R 2013, ' Uremic toxins inhibit renal metabolic capacity through interference with glucuronidation and mitochondrial respiration ', Biochimica et Biophysica Acta-Molecular Basis of Disease, vol. 1832, no. 1, pp. 142-150 . https://doi.org/10.1016/j.bbadis.2012.09.006
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1832, 142-50مصطلحات موضوعية: medicine.medical_specialty, Glucuronosyltransferase, Organic anion transporter 1, Drug-Related Side Effects and Adverse Reactions, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Glucuronidation, Uremic toxins, Oxidative phosphorylation, Kidney, Renal disorder Energy and redox metabolism [IGMD 9], Cell Line, Electron Transport, Cresols, Internal medicine, Chronic kidney disease, medicine, Humans, Umbelliferones, Molecular Biology, Uremia, Renal disorder [IGMD 9], Drug metabolism, biology, Cardiovascular diseases [NCEBP 14], Chemistry, Kidney metabolism, Mitochondrial medicine Energy and redox metabolism [IGMD 8], medicine.disease, Mitochondria, Succinate Dehydrogenase, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], Membrane transport and intracellular motility Renal disorder [NCMLS 5], Pharmaceutical Preparations, biology.protein, Molecular Medicine, UDP-glucuronosyltransferases
وصف الملف: application/pdf
-
6
المؤلفون: O Wrong, Sian E. Piret, Jonathan D. Lippiat, L.P.W.J. van den Heuvel, Caroline M Gorvin, Elena Levtchenko, Rajesh V. Thakker, Parmjit S. Jat, Brian Harding, Martijn J. Wilmer
المصدر: Proceedings of the National Academy of Sciences USA, 110, 17, pp. 7014-9
Proceedings of the National Academy of Sciences USA, 110, 7014-9مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Endosome, Vesicle-Associated Membrane Protein 2, Endocytic cycle, Green Fluorescent Proteins, Dent Disease, Endosomes, Biology, Endocytosis, Renal disorder Energy and redox metabolism [IGMD 9], Cell Line, Kidney Tubules, Proximal, Chloride Channels, Humans, Renal disorder [IGMD 9], Multidisciplinary, Microscopy, Confocal, Reabsorption, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Epithelial Cells, Receptor-mediated endocytosis, Hydrogen-Ion Concentration, Biological Sciences, Cubilin, Cell biology, Renal disorder Membrane transport and intracellular motility [IGMD 9], Membrane transport and intracellular motility Renal disorder [NCMLS 5], Mutation, Chloride channel
وصف الملف: application/pdf
-
7Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene
المؤلفون: Lambert P. van den Heuvel, Dineke Westra, Elena B. Volokhina, Nicole C. A. J. van de Kar, Matthew C. Pickering, Katherine A. Vernon
المصدر: Journal of Human Genetics, 57, 459-64
Journal of Human Genetics, 57, 7, pp. 459-64
Journal of human geneticsمصطلحات موضوعية: complement regulation, Male, Complement Pathway, Alternative, DNA Mutational Analysis, atypical HUS, Complement Membrane Attack Complex, urologic and male genital diseases, medicine.disease_cause, 0302 clinical medicine, hemic and lymphatic diseases, Child, Conserved Sequence, Genetics (clinical), Atypical Hemolytic Uremic Syndrome, Renal disorder [IGMD 9], Genetics & Heredity, Genetics, 0303 health sciences, Mutation, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], PROTEIN-5, Middle Aged, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], Factor H, Female, Life Sciences & Biomedicine, genetic defects, CFHR5, Heterozygote, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Article, Young Adult, 03 medical and health sciences, Molecular genetics, Atypical hemolytic uremic syndrome, medicine, Humans, Amino Acid Sequence, Genetic Testing, 030304 developmental biology, 0604 Genetics, Science & Technology, MUTATIONS, 1103 Clinical Sciences, Complement System Proteins, medicine.disease, Complement system, MCP, Case-Control Studies, Hemolytic-Uremic Syndrome, Alternative complement pathway, Complement membrane attack complex, 030215 immunology
-
8
المؤلفون: Volokhina, E.B., Westra, D., Xue, X, Gros, P., van der Kar, N.C.A.J., van den Heuvel, L., Crystal and Structural Chemistry, Rontgen participation programme, Dep Biologie, Sub Crystal and Structural Chemistry
المساهمون: Crystal and Structural Chemistry, Rontgen participation programme, Dep Biologie, Sub Crystal and Structural Chemistry
المصدر: Publons
Pediatric Nephrology, 27, 1519. Springer Verlag
Pediatric Nephrology (Berlin, Germany)
Pediatric Nephrology, 27, 9, pp. 1519-24
Pediatric Nephrology, 27, 1519-24مصطلحات موضوعية: Nephrology, Male, DNA Mutational Analysis, 030232 urology & nephrology, Complement regulation, medicine.disease_cause, urologic and male genital diseases, 0302 clinical medicine, hemic and lymphatic diseases, Medicine, Child, Renal disorder [IGMD 9], Atypical Hemolytic Uremic Syndrome, 0303 health sciences, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Complement C3, Middle Aged, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], Genetic defects, Factor H, Child, Preschool, Complement Factor H, Complement C3b, Female, Original Article, DNA analysis, Protein Binding, Adult, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Adolescent, Molecular Sequence Data, Mutation, Missense, Renal disorder Energy and redox metabolism [IGMD 9], 03 medical and health sciences, Young Adult, aHUS, Internal medicine, Atypical hemolytic uremic syndrome, Humans, Amino Acid Sequence, Pediatrics, Perinatology, and Child Health, Risk factor, C3, 030304 developmental biology, Base Sequence, business.industry, Autoantibody, Infant, medicine.disease, Complement system, Transplantation, Pediatrics, Perinatology and Child Health, Immunology, Hemolytic-Uremic Syndrome, business
وصف الملف: image/pdf
-
9
المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SASمصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business
وصف الملف: application/pdf
-
10
المؤلفون: Brad Tinloy, Nesrin Besbas, Meral Gunay-Aygun, Lambert P. van den Heuvel, Fatih Ozaltin, Rezan Topaloglu, Thierry Vilboux, Aysin Bakkaloglu, William A. Gahl, Robert Kleta, Turgay Coşkun
المساهمون: Çocuk Sağlığı ve Hastalıkları
المصدر: Pediatric Nephrology, 27, 115-21
Pediatric Nephrology, 27, 1, pp. 115-21مصطلحات موضوعية: Male, Pediatrics, Turkey, Cystinosis, DNA Mutational Analysis, Polymerase Chain Reaction, Medicine, Missense mutation, Renal Insufficiency, Child, Sequence Deletion, Genetics, education.field_of_study, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Exons, Urology & Nephrology, Renal disorder Membrane transport and intracellular motility [IGMD 9], Proteinuria, Phenotype, Nephrology, Failure to thrive, Disease Progression, Female, medicine.symptom, Adult, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Adolescent, Population, Mutation, Missense, Renal disorder Energy and redox metabolism [IGMD 9], Article, Young Adult, Polyuria, Nephropathic Cystinosis, Humans, Point Mutation, Genetic Predisposition to Disease, Polydipsia, education, business.industry, Point mutation, Fanconi syndrome, medicine.disease, Fanconi Syndrome, Introns, Failure to Thrive, Amino Acid Transport Systems, Neutral, Pediatrics, Perinatology and Child Health, Mutation, Kidney Failure, Chronic, business
وصف الملف: text/plain
-
11
المؤلفون: Rik Westland, Erik-Jan Kamsteeg, P. van der Valk, J.M. van Hagen, H.J.R. van der Horst, W.W.M. Hack, L.B. Uittenbogaard, J. A. E. van Wijk, L.P.W.J. van den Heuvel
المساهمون: Pediatric surgery, Urology, Obstetrics and gynaecology, Human genetics, Pathology, ICaR - Ischemia and repair
المصدر: Clinical Nephrology, 78, 6, pp. 492-496
Clinical Nephrology, 78, 492-496
Westland, R, Hack, W W M, van der Horst, H J R, Uittenbogaard, L B, van Hagen, J M, van der Valk, P, Kamsteeg, E J, van den Heuvel, L P & van Wijk, J A E 2012, ' Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation ', Clinical Nephrology, vol. 78, no. 6, pp. 492-496 . https://doi.org/10.5414/CN107206
Clinical Nephrology, 78(6), 492-496. Dustri-Verlag Dr. Karl Feistleمصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Polyhydramnios, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], endocrine system diseases, Urinary system, Prenatal diagnosis, Kidney, Bartter syndrome, urologic and male genital diseases, Renal disorder Energy and redox metabolism [IGMD 9], Genomic disorders and inherited multi-system disorders [IGMD 3], Chloride Channels, Pregnancy, Prenatal Diagnosis, medicine, Humans, Urinary Tract, CLCNKB, biology, business.industry, Bartter Syndrome, Mitochondrial medicine Energy and redox metabolism [IGMD 8], General Medicine, medicine.disease, Hypokalemia, female genital diseases and pregnancy complications, Renal disorder Membrane transport and intracellular motility [IGMD 9], medicine.anatomical_structure, Nephrology, Mutation, Chloride channel, biology.protein, Female, medicine.symptom, business
-
12
المؤلفون: Flemming Skovby, Martine T.P. Besouw, Elena Levtchenko, Francesco Emma, Marc R. Lilien, Lambertus P. van den Heuvel, Richard Bowker, Jean-Paul Dutertre, Marcella Greco, Jerry A. Schneider, François Nobili, William van’t Hoff, William A. Gahl, John McKiernan
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: Journal of Pediatrics, 159, 6, pp. 1004-11
Journal of Pediatrics, 159, 1004-11
Journal of Pediatrics, 159(6), 1004-1011. MOSBY-ELSEVIERمصطلحات موضوعية: Male, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Cysteamine, Cystinosis, PENICILLAMINE, Ischemia, CHILDREN, THERAPY, Renal disorder Energy and redox metabolism [IGMD 9], NEPHROPATHIC CYSTINOSIS, chemistry.chemical_compound, Nephropathic Cystinosis, Biopsy, medicine, Humans, Adverse effect, Body surface area, medicine.diagnostic_test, business.industry, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, medicine.disease, Surgery, Renal disorder Membrane transport and intracellular motility [IGMD 9], chemistry, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, Toxicity, Drug Eruptions, business, SKIN
-
13
المؤلفون: Thea J A M van der Velden, Martijn J. Wilmer, Rosalinde Masereeuw, Elena Levtchenko, Leo A. H. Monnens, Leo A. J. Kluijtmans, Peter G. Scheffer, Lambertus P. van den Heuvel, Peter H.G.M. Willems
المساهمون: Laboratory Medicine, ICaR - Ischemia and repair
المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 643-51
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812(6), 643-651. Elsevier
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Wilmer, M J, Kluijtmans, L A J, van der Velden, T J, Willems, P H, Scheffer, P G, Masereeuw, R, Monnens, L A, van den Heuvel, L P & Levtchenko, E N 2011, ' Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells ', Biochimica et Biophysica Acta. Molecular Basis of Disease, vol. 1812, no. 6, pp. 643-651 . https://doi.org/10.1016/j.bbadis.2011.02.010
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1812, 6, pp. 643-51
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease; Vol 1812مصطلحات موضوعية: Male, Cystinosis, 030232 urology & nephrology, medicine.disease_cause, Kidney Tubules, Proximal, chemistry.chemical_compound, 0302 clinical medicine, Adenosine Triphosphate, Child, Cells, Cultured, Renal disorder [IGMD 9], 0303 health sciences, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Functional imaging [IGMD 1], Glutathione, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], ATP production, Redox status, Cystinosin, Child, Preschool, Molecular Medicine, Female, Oxidation-Reduction, medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Adolescent, Cysteamine, Cystine, Renal disorder Energy and redox metabolism [IGMD 9], End stage renal disease, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Nephropathic Cystinosis, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, Cell Proliferation, Infant, Epithelial Cells, medicine.disease, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, chemistry, Oxidative stress, Reactive Oxygen Species
وصف الملف: application/pdf
-
14
المؤلفون: Alice Janssen, Lambertus P. van den Heuvel, Maïlys Guillard, Eva Morava, Nina Ondruskova, Hana Hansikova, Jiri Zeman, Machiko Kadoya, Isao Yuasa, Katerina Vesela, Ron A. Wevers, Yoshinao Wada, Dirk J. Lefeber
المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Peptide, Neuroinformatics [DCN 3], CDG - an update, medicine.disease_cause, Renal disorder Energy and redox metabolism [IGMD 9], Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Catalytic Domain, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), chemistry.chemical_classification, Mutation, biology, Isoelectric focusing, Transferrin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Molecular biology, Human genetics, Renal disorder Membrane transport and intracellular motility [IGMD 9], Isoelectric point, chemistry, Biochemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Isoelectric Focusing, Perception and Action Glycostation disorders [DCN 1], Protein Processing, Post-Translational, Neuraminidase
-
15
المؤلفون: Lambert P. van den Heuvel, Kinga Hadzsiev, Willy M. Nillesen, G Gillessen-Kaesbach, Eva Morava, Katalin Hollody, Martin Lammens, Cees Noordam, Ernie M.H.F. Bongers, Jan A.M. Smeitink, Ineke van der Burgt, Richard J. Rodenburg, Saskia B. Wortmann, Tjitske Kleefstra
المصدر: European Journal of Human Genetics, 19, 138-44
European Journal of Human Genetics, 19, 2, pp. 138-44مصطلحات موضوعية: Heart Defects, Congenital, Mitochondrial encephalomyopathy, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], MAP Kinase Signaling System, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, Bioinformatics, DNA, Mitochondrial, LEOPARD Syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Article, Craniofacial Abnormalities, Proto-Oncogene Proteins p21(ras), Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Encephalomyopathies, Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Abnormalities, Multiple, HRAS, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Inner mitochondrial membrane, Genetics (clinical), Renal disorder [IGMD 9], Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Barth syndrome, Middle Aged, 3-Methylglutaconic Aciduria, Glycostation disorders [IGMD 4], medicine.disease, PTPN11, Renal disorder Membrane transport and intracellular motility [IGMD 9], Endocrinology, Mitochondrial medicine [IGMD 8], Child, Preschool, Barth Syndrome, Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Skin Abnormalities, ras Proteins, Female
وصف الملف: application/pdf
-
16
المؤلفون: Peter M. van Hasselt, Paul Smits, Woranontee Weraarpachai, Lambert P. van den Heuvel, Hanka Venselaar, Wolfram Haller, Hana Antonicka, Marieke Schreurs, Richard J. Rodenburg, Jan A.M. Smeitink
المصدر: European Journal of Human Genetics, 19, 3, pp. 275-9
European Journal of Human Genetics, 19, 275-9مصطلحات موضوعية: Chemical and physical biology [NCMLS 7], Mitochondrial DNA, Mitochondrial Diseases, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Protein Conformation, Mitochondrial translation, Mitochondrial disease, Molecular Sequence Data, Mitochondrion, Biology, Renal disorder Energy and redox metabolism [IGMD 9], Article, Oxidative Phosphorylation, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Encephalomyopathies, Genetics, medicine, Humans, Muscle, Skeletal, Cells, Cultured, Genetics (clinical), Epilepsy, Infant, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Fibroblasts, Peptide Elongation Factor G, medicine.disease, Molecular biology, Mitochondria, Renal disorder Membrane transport and intracellular motility [IGMD 9], Elongation factor, Child, Preschool, Protein Biosynthesis, Mutation, DNAJA3, Female, ATP–ADP translocase
وصف الملف: application/pdf
-
17
المؤلفون: Martin Lammens, Merei Huigsloot, Richard J. Rodenburg, Radek Szklarczyk, Ute Spiekerkoetter, Lambert P. van den Heuvel, Martijn A. Huynen, Werner J.H. Koopman, Jürgen-Christoph von Kleist-Retzow, Marleen Forkink, Jack A.M. Fransen, Jitske Jansen, An I. Jonckheere, Jan A.M. Smeitink
المصدر: Mitochondrion, 11, 6, pp. 954-63
Mitochondrion, 11, 954-63
ResearcherIDمصطلحات موضوعية: Male, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Energy and redox metabolism [NCMLS 4], Mitochondrial disease, Mitochondrion, Biology, Renal disorder Energy and redox metabolism [IGMD 9], Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Proteins, Perception and Action [DCN 1], medicine, Humans, Inner mitochondrial membrane, Molecular Biology, Gene, Cells, Cultured, Renal disorder [IGMD 9], Sequence Deletion, Comparative genomics, Adenosine Triphosphatases, Genetic Complementation Test, Infant, Newborn, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Membrane Proteins, Cell Biology, Immunogold labelling, Fibroblasts, Mitochondrial Proton-Translocating ATPases, medicine.disease, Mitochondrial morphology, Molecular biology, Mitochondria, Renal disorder Membrane transport and intracellular motility [IGMD 9], Complementation, Mitochondrial medicine [IGMD 8], Membrane transport and intracellular motility Renal disorder [NCMLS 5], Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Molecular Medicine, Carrier Proteins
وصف الملف: application/pdf
-
18
المؤلفون: G. Herma Renkema, Lambert P. van den Heuvel, Maaike Bras, An I. Jonckheere, Christian Gilissen, Richard J. Rodenburg, Jan A.M. Smeitink, Martijn A. Huynen, Alexander Hoischen, Sander B. Nabuurs, Maaike de Vries
المصدر: Brain, 136, 1544-1554
Brain, 136, Pt 5, pp. 1544-1554مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Bioinformatics, Mitochondrial disease, Biology, medicine.disease_cause, Renal disorder Energy and redox metabolism [IGMD 9], Protein Structure, Secondary, Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Encephalomyopathies, medicine, Humans, Allele, Gene, Exome, Exome sequencing, Cells, Cultured, Genetics, Mutation, Infant, Newborn, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Gene Abnormality, Mitochondrial Proton-Translocating ATPases, medicine.disease, Molecular biology, Complementation, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Oxidative Phosphorylation Coupling Factors, Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Neurology (clinical), Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
-
19
المؤلفون: Bwee Tien Poll-The, Gudrun Nürnberg, Edward J. Bradley, Marian A. J. Weterman, Peter Nürnberg, Marit B. de Wissel, Yolande E M Thomasse, Peter G. Barth, Karin Y. van Spaendonck-Zwarts, Leonardo Salviati, Zohal Qahar, Frank Baas, Lambertus P. van den Heuvel, Eleonora Aronica, J. Peter van Tintelen, Oebele F. Brouwer, Corrado Angelini, Ad P. C. M. Backx
المساهمون: Cardiovascular Centre (CVC), Amsterdam Neuroscience, Cancer Center Amsterdam, Human Genetics, Genome Analysis, Paediatric Neurology, Amsterdam Public Health, Neurology, Pathology, Amsterdam Gastroenterology Endocrinology Metabolism, Other departments, Cardiology, Paediatric Cardiology
المصدر: Brain, 136, 282-293. Oxford University Press
Brain, 136, Pt 1, pp. 282-93
Brain, 136(1), 282-293. Oxford University Press
Brain, 136, 282-93مصطلحات موضوعية: Male, Myosin light-chain kinase, Myosin Light Chains, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], light chain myopathy, Biology, myosinopathy, Compound heterozygosity, Renal disorder Energy and redox metabolism [IGMD 9], Frameshift mutation, MISSENSE MUTATION, Muscular Diseases, myosin regulatory light chain, DISTAL MYOPATHY, FORCE PRODUCTION, Myosin, medicine, Humans, Myopathy, Muscle, Skeletal, type I hypotrophy, REGULATORY LIGHT-CHAINS, MYOSIN HEAVY-CHAIN, TRANSGENIC MICE, Genetics, HYPERTROPHIC CARDIOMYOPATHY, LINKAGE ANALYSIS, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, Cardiomyopathy, Hypertrophic, MYL2, Myosin complex, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mutation, SKELETAL-MUSCLE, MYH7, Female, STORAGE MYOPATHY, Neurology (clinical), medicine.symptom
-
20
المؤلفون: Noël Knops, Bert van den Heuvel, Dirk Kuypers, Elena Levtchenko
المصدر: International Journal of Pharmaceutics, 452, 14-35
International Journal of Pharmaceutics, 452, 1-2, pp. 14-35مصطلحات موضوعية: medicine.medical_specialty, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Calcineurin Inhibitors, Pharmaceutical Science, Biology, Pharmacology, Kidney, Renal disorder Energy and redox metabolism [IGMD 9], Tacrolimus, Organ transplantation, Therapeutic index, Pharmacokinetics, medicine, Animals, Humans, Intestinal Mucosa, CYP3A4, medicine.diagnostic_test, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Organ Transplantation, Renal disorder Membrane transport and intracellular motility [IGMD 9], Transplantation, Calcineurin, Liver, Therapeutic drug monitoring, Cyclosporine, Immunosuppressive Agents