المؤلفون: Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, for UD-PrOZA

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Rare diseases, UD-PrOZA, Diagnostic odyssey, Whole exome sequencing, Diagnostic yield, MAP3K7, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/132a277748754b7f9f15a3480f1078a1

المؤلفون: Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Marije E.C. Meuwissen

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: NEDD4L, periventricular nodular heterotopia, polymicrogyria, syndactyly, seizures, malformation of cortical development, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00026/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5b1e469f059b47b6986cec8e6e0ff986

المؤلفون: Sunny Eloot, Jonathan De Rudder, Patrick Verloo, Evelyn Dhont, Ann Raes, Wim Van Biesen, Evelien Snauwaert

المصدر: Toxins, Vol 13, Iss 7, p 484 (2021)

مصطلحات موضوعية: hyperammonemia, inborn errors of metabolism, hemodialysis, infant, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6651/13/7/484; https://doaj.org/toc/2072-6651

URL الوصول: https://doaj.org/article/fd4a80af47934805894be7898102c2f2

المؤلفون: M. Estela Rubio-Gozalbo, Patrick Verloo, Sabine Scholl-Bürgi, U. Meyer, Ina Knerr, David Cassiman, Aurélie Empain, Dorothea Möslinger, Mariela M. De Los Santos De Pelegrin, Britt Derks, Can Ficicioglu, Matthias Gautschi, Natalia Juliá Palacios, Didem Demirbas, David J. Timson, Eileen P. Treacy, Annet M. Bosch, M. Luz Couce, Philippe Labrune, Gerard T. Berry, Isabel Rivera, Anastasia Skouma, Anibh M. Das, Saskia B. Wortmann

المساهمون: Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Genetics in Medicine
Genetics in Medicine, 23(1), 202-210. Nature Publishing Group
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9 <http://dx.doi.org/10.1038/s41436-020-00942-9>
Genetics in medicine, 23(1), 202-210. Lippincott Williams and Wilkins

مصطلحات موضوعية: cataract, galactosemias registry, Galactosemias, Pediatrics, medicine.medical_specialty, galactokinase 1 deficiency, Population, Encephalopathy, GALK1 gene variants, VARIANT, 610 Medicine & health, Article, Galactokinase, ERYTHROCYTES, Medicine and Health Sciences, Medicine, Humans, Genetics(clinical), Registries, education, MUTATION, Genetics (clinical), education.field_of_study, Newborn screening, business.industry, Neonatal hypoglycemia, Homozygote, Infant, Newborn, neonatal complications, Childhood cataract, medicine.disease, Galactokinase deficiency, Bleeding diathesis, GALK1gene variants, Elevated transaminases, business, GALACTOSEMIA

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37dd47a5aaff6b00735d1f908cb3b8e
https://doi.org/10.1038/s41436-020-00942-9

المؤلفون: Ruth De Bruyne, Patrick Verloo, Tassos Grammatikopoulos, Bert Callewaert, Stephanie Van Biervliet, Anne Hoorens, Myriam Van Winckel, Maesha Deheragoda, Sofie Symoens, Hannes Syryn, Saskia Vande Velde

المصدر: Clinical geneticsREFERENCES. 100(4)

مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, Genotype, Biopsy, Developmental Disabilities, Cholangitis, Sclerosing, DNA Mutational Analysis, Context (language use), Ciliopathies, Consanguinity, Nephronophthisis, Biliary atresia, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Global developmental delay, Age of Onset, Genetics (clinical), Alleles, Genetic Association Studies, business.industry, Infant, Newborn, medicine.disease, Ciliopathy, Phenotype, Mutation, Congenital hepatic fibrosis, business, Microtubule-Associated Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d74fdc69bd0b442547f94c229c4dd56
https://pubmed.ncbi.nlm.nih.gov/34155636

المؤلفون: Maesha Deheragoda, Bert Callewaert, Myriam Van Winckel, Sofie Symoens, Stephanie Van Biervliet, Ruth De Bruyne, Patrick Verloo, Anne Hoorens, Saskia Vande Velde, Hannes Syryn, Tassos Grammatikopoulos

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, DCDC2, business.industry, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ee9e76b217bd61e82217b8bb3e6fe6
https://doi.org/10.1111/cge.14012/v2/response1

المؤلفون: Ruth De Bruyne, Myriam Van Winckel, Johan L.K. Van Hove, Stephanie Van Biervliet, Patrick Verloo, Pauline De Bruyne, Saskia Vande Velde, Bernard de Hemptinne

المصدر: Pediatric Transplantation. 25

مصطلحات موضوعية: Coma, Transplantation, medicine.medical_specialty, business.industry, medicine.medical_treatment, 030232 urology & nephrology, Hyperammonemia, 030230 surgery, Liver transplantation, medicine.disease, Gastroenterology, Cerebral edema, 03 medical and health sciences, 0302 clinical medicine, Inborn error of metabolism, Urea cycle, Internal medicine, Metabolic control analysis, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::139c7ca7309396a23b41a2fa8ffb8fea
https://doi.org/10.1111/petr.13943

المؤلفون: Jaime Barea, Bernd C. Schwahn, Annette Feigenbaum, A.M. Das, Bruce A. Barshop, Hedwig Stepman, Jean-François Benoist, Thomas Scheffner, Henk J. Blom, Patrick Verloo, Janice M. Fletcher

المصدر: JIMD reports, vol 52, iss 1
JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)
JIMD REPORTS
JIMD Reports

مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Encephalopathy, Case Report, Homocystinuria, Case Reports, Biochemistry, Genetics and Molecular Biology (miscellaneous), lcsh:Diseases of the endocrine glands. Clinical endocrinology, CBS deficiency, homocystinuria, chemistry.chemical_compound, Betaine, Rare Diseases, Internal medicine, Medicine and Health Sciences, Internal Medicine, medicine, betaine, Intracranial pressure, Nutrition, brain edema, Methionine, lcsh:RC648-665, biology, adverse drug effect, business.industry, Neurosciences, medicine.disease, encephalopathy, Cystathionine beta synthase, Brain Disorders, lcsh:Genetics, Endocrinology, chemistry, Concomitant, biology.protein, Hypermethioninemia, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4071444aaf4ddddc4e87df9c79262e74
https://escholarship.org/uc/item/4dd851kp

المؤلفون: Petra Schelstraete, Gesine Behrens, R. Van Coster, Bart N. Lambrecht, Eef Parthoens, G. Van Isterdael, H. Van Gorp, Rudi Beyaert, S. Van Gassen, Simon Tavernier, Melissa Dullaers, Filomeen Haerynck, Yvan Saeys, Jens Staal, M. Lamkanfi, Julia I. Ellyard, L. X. Morris, Patrick Verloo, Vigo Heissmeyer, Joke Dehoorne, Jean Cappello, Leslie Naesens, Victoria Bordon, Björn Menten, Carola G. Vinuesa, Delfien Bogaert, M. A. A. De Bruyne, Vicki Athanasopoulos

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-1 (2019)

مصطلحات موضوعية: 0301 basic medicine, Science, media_common.quotation_subject, Nonsense, General Physics and Astronomy, ComputerApplications_COMPUTERSINOTHERSYSTEMS, 02 engineering and technology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, ComputingMilieux_COMPUTERSANDEDUCATION, Data_FILES, medicine, lcsh:Science, media_common, Genetics, Multidisciplinary, business.industry, General Chemistry, Immune dysregulation, 021001 nanoscience & nanotechnology, 030104 developmental biology, Mutation (genetic algorithm), ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, lcsh:Q, 0210 nano-technology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb55dd58dff6c3a5a08dfc47fae7254
https://doi.org/10.1038/s41467-019-13379-9

المؤلفون: Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Marije E.C. Meuwissen

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, NEDD4L, periventricular nodular heterotopia, polymicrogyria, syndactyly, seizures, malformation of cortical development

Relation: https://figshare.com/articles/dataset/Table_1_Recurrent_NEDD4L_Variant_in_Periventricular_Nodular_Heterotopia_Polymicrogyria_and_Syndactyly_docx/11806749

الاتاحة: https://doi.org/10.3389/fgene.2020.00026.s001
https://figshare.com/articles/dataset/Table_1_Recurrent_NEDD4L_Variant_in_Periventricular_Nodular_Heterotopia_Polymicrogyria_and_Syndactyly_docx/11806749

المؤلفون: Koichi Nakanishi, Werner Keenswijk, Patrick Verloo

المصدر: Pediatric Nephrology (Berlin, Germany)

مصطلحات موضوعية: Nephrology, Circulatory failure, Pediatrics, Perinatology and Child Health, Clinical Quiz, Corticomedullary differentiation, Cobalamin deficiency-associated hemolytic uremic syndrome, Child, Homocysteine, PRES, Severe hypertension

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d03fa9d14a6fffe3c576c67b3087d66a
https://doi.org/10.1007/s00467-017-3600-0

المؤلفون: Julia I. Ellyard, Carola G. Vinuesa, Jens Staal, L. X. Morris, Delfien Bogaert, H. Van Gorp, Björn Menten, Simon Tavernier, Jean Cappello, Victoria Bordon, Rudi Beyaert, Eef Parthoens, S. Van Gassen, Leslie Naesens, Bart N. Lambrecht, Gesine Behrens, M. Lamkanfi, Filomeen Haerynck, G. Van Isterdael, Vicki Athanasopoulos, R. Van Coster, Melissa Dullaers, Yvan Saeys, Patrick Verloo, Vigo Heissmeyer, Joke Dehoorne, Petra Schelstraete, M. A. A. De Bruyne

المساهمون: Pulmonary Medicine

المصدر: NATURE COMMUNICATIONS
Nat. Commun. 10:4779 (2019)
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Nature Communications, 10:4779. Nature Publishing Group

مصطلحات موضوعية: Male, 0301 basic medicine, T-Lymphocytes, medicine.medical_treatment, General Physics and Astronomy, medicine.disease_cause, T-Lymphocytes, Regulatory, RNA decay, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, Monocytes, DISEASE, Consanguinity, Mice, 0302 clinical medicine, DOMAIN, Recurrence, Medicine and Health Sciences, lcsh:Science, Receptor, CONSTITUTIVE-DECAY, Mutation, Multidisciplinary, MESSENGER-RNA DECAY, Disease genetics, Homozygote, RNA-Binding Proteins, Familial Hemophagocytic Lymphohistiocytosis, 3. Good health, ROQ, Cytokine, Codon, Nonsense, 030220 oncology & carcinogenesis, Cyclosporine, Primary immunodeficiency disorders, Tumor necrosis factor alpha, Immunosuppressive Agents, Adolescent, Science, Ubiquitin-Protein Ligases, REGNASE-1, Article, Lymphohistiocytosis, Hemophagocytic, General Biochemistry, Genetics and Molecular Biology, Immunophenotyping, Inducible T-Cell Co-Stimulator Protein, 03 medical and health sciences, Eosinophilia, medicine, Animals, Humans, Author Correction, MACROPHAGE ACTIVATION SYNDROME, Inflammation, Hemophagocytic lymphohistiocytosis, COMPLEX, business.industry, RECOGNITION, Biology and Life Sciences, General Chemistry, biochemical phenomena, metabolism, and nutrition, Receptors, OX40, Immune dysregulation, medicine.disease, 030104 developmental biology, ELEMENT, HELPER T-CELLS, Macrophage activation syndrome, Immunology, lcsh:Q, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b6e7258ab6c5e3837b0a2629cfeb38
https://hdl.handle.net/1854/LU-8639577

المؤلفون: Fredrik H. Sterky, Carola Hedberg-Oldfors, Linda De Meirleir, Patrick Verloo, Gittan Kollberg, Sara Seneca, Anders Oldfors, Niklas Darin, Anna Karin Berglund, Carl Johan Törnhage, Arnaud Vanlander, Erik A. Eklund, Elizabeth Jennions

المصدر: Journal of inherited metabolic diseaseREFERENCES. 42(5)

مصطلحات موضوعية: Male, Ataxia, Adolescent, Developmental Disabilities, Autopsy, Disease, Bioinformatics, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, Intellectual Disability, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Exome, Child, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, business.industry, Cerebral Palsy, Dysarthria, 030305 genetics & heredity, Aryl Hydrocarbon Receptor Nuclear Translocator, Exons, Subcellular localization, Mitochondria, Pedigree, Phenotype, Child, Preschool, Mutation, Female, medicine.symptom, business, Energy Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa583878c2713427bd7a75b3cf2e842
https://pubmed.ncbi.nlm.nih.gov/31276219

المؤلفون: Anna Jansen, Willy Lissens, Katrien Stouffs, Patrick Verloo, An Sofie Schoonjans, Sara Seneca, Linda De Meirleir, Hilde Laeremans, Geert A. Martens, D Barca, Marije E.C. Meuwissen, Alexander Gheldof

المساهمون: Medical Genetics, Clinical sciences, Reproduction and Genetics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics, Pathology/molecular and cellular medicine, Diabetes Pathology & Therapy

المصدر: Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
MOLECULAR GENETICS & GENOMIC MEDICINE
Molecular genetics & genomic medicine, 7 (2

مصطلحات موضوعية: GLUCOCEREBROSIDASE, 0301 basic medicine, NIEMANN-PICK-DISEASE, next‐generation sequencing, Disease, 030105 genetics & heredity, Bioinformatics, NEPHROPATHIC CYSTINOSIS, Gene panel, Medicine and Health Sciences, Lysosomal storage disease, Genetics(clinical), Cells, Cultured, Genetics (clinical), Immunoassay, Mucolipidosis, gene panel sequencing, Molecular Diagnostic Techniques, lysosomal storage disease, Original Article, Galactosialidosis, DOMAINS, diagnostic testing, 03 medical and health sciences, ALPHA-L-IDURONIDASE, Genetics, medicine, Humans, In patient, Genetic Testing, COMMON, Molecular Biology, FUNCTIONAL-ANALYSIS, IDENTIFICATION, MUTATIONS, business.industry, Généralités, Sequence Analysis, DNA, Original Articles, Gold standard (test), Fibroblasts, medicine.disease, Lysosomal Storage Diseases, 030104 developmental biology, DEFECT, 4MU-based enzymatic testing, next-generation sequencing, Neuronal ceroid lipofuscinosis, Human medicine, business

وصف الملف: pdf; application/pdf; 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faffc388103b647910aab3761054e0c4
https://doi.org/10.1002/mgg3.527

المؤلفون: Patrick Verloo, Joke Dehoorne, Veerle Mondelaers, Benedikte Van Driessche, Rudy Van Coster, Nele Herregods, Helene Verhelst

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 23(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Cyclophosphamide, Prednisolone, Central nervous system, Azathioprine, Mycophenolate, 03 medical and health sciences, 0302 clinical medicine, Recurrence, medicine, Humans, Child, Vasculitis, Central Nervous System, Stroke, 030203 arthritis & rheumatology, business.industry, General Medicine, Guideline, Mycophenolic Acid, medicine.disease, Arterial Ischemic Stroke, Surgery, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Etiology, Drug Therapy, Combination, Neurology (clinical), business, 030217 neurology & neurosurgery, Immunosuppressive Agents, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d8bbd224076bd65852fc03570be52e
https://pubmed.ncbi.nlm.nih.gov/30528093

المؤلفون: Karlien Dhondt, Patrick Verloo, Sebastiaan Overeem, Helene Verhelst, Rudy Van Coster

المصدر: Pediatrics (Evanston), 132, 3, pp. e788-92
Pediatrics (Evanston), 132, e788-92

مصطلحات موضوعية: Sleep Wake Disorders, Pediatrics, medicine.medical_specialty, Cataplexy, DCN MP - Plasticity and memory, Polysomnography, Excessive daytime sleepiness, Puberty, Precocious, Diagnosis, Differential, Fatal Outcome, ROHHAD, Medicine, Autonomic dysregulation, Humans, Obesity, Child, Narcolepsy, Orexins, medicine.diagnostic_test, business.industry, Neuropeptides, Intracellular Signaling Peptides and Proteins, Hypoventilation, medicine.disease, Sleep Apnea, Central, Heart Arrest, Anesthesia, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Hypothalamic Diseases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b17398ca84374c6732022782a6e8392
https://doi.org/10.1542/peds.2012-3225

المؤلفون: Patrick Verloo, Werner Keenswijk, Johan Vande Walle

المصدر: Pediatric nephrology (Berlin, Germany). 32(11)

مصطلحات موضوعية: Nephrology, medicine.medical_specialty, Pediatrics, business.industry, 030232 urology & nephrology, CIRCULATORY FAILURE, MEDLINE, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, business, Intensive care medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8fe5d589e1d70c668ab8064fa2c5488
https://pubmed.ncbi.nlm.nih.gov/28154940

المؤلفون: Karlien Dhondt, Rudy Van Coster, Helene Verhelst, Boel De Paepe, Patrick Verloo, Josep Dalmau, Björn Menten

المصدر: European Journal of Paediatric Neurology. 15:163-166

مصطلحات موضوعية: Male, Graves' disease, Human leukocyte antigen, Biology, Receptors, N-Methyl-D-Aspartate, Article, medicine, Humans, Genetic Predisposition to Disease, Clinical significance, Ovarian Teratoma, Autoantibodies, Anti-NMDA receptor encephalitis, HLA-D Antigens, Autoantibody, Respiratory infection, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Encephalitis, Chromosomes, Human, Pair 6, Neurology (clinical), Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9f6089526dd3bff1a904df4efe7a43f
https://doi.org/10.1016/j.ejpn.2010.07.004

المؤلفون: Patrick Verloo, Ajay Pillai, Henry M. Staines, Abdulnaser Alkhalil, Sanjay A. Desai, Florian Lang, Richard J.W. Allen, Serge Thomas, Sherin J. Rouhani, Kempaiah Rayavara, Kevin J. Saliba, Eugene K. Oteng, Hugo R. de Jonge, Elvira T. Derbyshire, Kiaran Kirk, Godfrey Lisk, Stéphane Egée, Tsione Solomon, Stephan M. Huber, Hagai Ginsburg, David R.C. Hill, Crystal Shen

المساهمون: School of Geographical Sciences [Bristol], University of Bristol [Bristol], Institut d'Informatique et de Mathématiques Appliquées de Grenoble (IMAG), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS), Department of Biochemistry [Netherlands] (DB), Department of Biochemistry-Medical Faculty, Erasmus University Medical Centre-Erasmus University Rotterdam, Department of Clinical Genetics (DCG), Erasmus University Medical Centre, Mer et santé (MS), Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Development and Fetal Health, Mount Sinai Hospital [Toronto, Canada] (MSH), Laboratoire d'Informatique, de Modélisation et d'optimisation des Systèmes (LIMOS), SIGMA Clermont (SIGMA Clermont)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Ecole Nationale Supérieure des Mines de St Etienne-Centre National de la Recherche Scientifique (CNRS)-Université Blaise Pascal - Clermont-Ferrand 2 (UBP), Technische Hoschschule, University of Applied Sciences [Darmstadt], Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute [Boston]-Department of Cancer Biology, Department of Genetics [Boston], Harvard Medical School [Boston] (HMS), School of Engineering and Science, University of the West of Scotland (UWS), System validation - Research and applications (VASY), Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire d'Informatique de Grenoble (LIG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF), Recherches en cancérologie, Université de Nantes (UN)-IFR26-Institut National de la Santé et de la Recherche Médicale (INSERM), School of Science, Huzhou Tearchers College, National ICT Australia [Sydney] (NICTA), National Institute of Allergy and Infectious Diseases [Bethesda] (NIAID-NIH), National Institutes of Health [Bethesda] (NIH), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Université d'Auvergne - Clermont-Ferrand I (UdA)-SIGMA Clermont (SIGMA Clermont)-Ecole Nationale Supérieure des Mines de St Etienne (ENSM ST-ETIENNE)-Centre National de la Recherche Scientifique (CNRS), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS), Biochemistry

المصدر: International Journal for Parasitology
International Journal for Parasitology, Elsevier, 2007, 37 (5), pp.475-82. ⟨10.1016/j.ijpara.2006.12.013⟩
International Journal for Parasitology, 2007, 37 (5), pp.475-82. ⟨10.1016/j.ijpara.2006.12.013⟩
International Journal for Parasitology, 37(5), 475-482. Elsevier Ltd.

مصطلحات موضوعية: MESH: Oxidation-Reduction, Cell Membrane Permeability, Erythrocytes, Patch-Clamp Techniques, Plasmodium, Ion Channels, MESH: Furosemide, 0302 clinical medicine, Furosemide, Parasite hosting, MESH: Animals, MESH: Cell Membrane Permeability, MESH: Membrane Transport Modulators, Malaria, Falciparum, Membrane Transport Modulators, MESH: Plasmodium falciparum, Confusion, MESH: Dantrolene, 0303 health sciences, biology, MESH: Erythrocytes, MESH: Malaria, Falciparum, 3. Good health, Infectious Diseases, medicine.symptom, Oxidation-Reduction, MESH: Anions, Anions, Plasmodium falciparum, 030231 tropical medicine, Dantrolene, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, MESH: Patch-Clamp Techniques, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, 030304 developmental biology, MESH: Humans, Membrane transport, biology.organism_classification, medicine.disease, Electrophysiology, Nitrobenzoates, MESH: Nitrobenzoates, MESH: Ion Channels, Immunology, Parasitology, Malaria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03aaaffa010efd759ac00f0ee272eb13
https://doi.org/10.1016/j.ijpara.2006.12.013

المؤلفون: Stefanie L. Davidson, Monte D. Mills, Albert M. Maguire, Lucas Bonafede, Grace K. Han, Brian J. Forbes, Charles W. Nichols, Jessica I. W. Morgan, Paige Kaplan, Gil Binenbaum, Tomas S. Aleman, Bart P. Leroy, Can Ficicioglu, Patrick Verloo, Leona W. Serrano

مصطلحات موضوعية: Retinal degeneration, Male, Retinal Ganglion Cells, Pathology, medicine.medical_specialty, genetic structures, Adolescent, Visual Acuity, Homocystinuria, Biology, Cobalamin, Severity of Illness Index, Retina, chemistry.chemical_compound, medicine, Electroretinography, Humans, Child, Amino Acid Metabolism, Inborn Errors, medicine.diagnostic_test, Retinal Degeneration, Infant, medicine.disease, MMACHC, eye diseases, medicine.anatomical_structure, chemistry, Child, Preschool, Maculopathy, Female, sense organs, CBLC, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39e3d07d9a03804e5e7b9f4e4992060
https://europepmc.org/articles/PMC4682491/