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1
المؤلفون: Christelle Corne, Laetitia Van Noolen, François Maillot, Patrice Faure, Lysiane Boulet, Gérard Besson
المصدر: Journal of inherited metabolic diseaseREFERENCES. 43(5)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Phenylalanine, 03 medical and health sciences, chemistry.chemical_compound, Kynurenic acid, Tandem Mass Spectrometry, Internal medicine, Phenylketonurias, Genetics, medicine, Humans, Prospective Studies, education, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, 030305 genetics & heredity, Tryptophan, nutritional and metabolic diseases, Metabolism, medicine.disease, Endocrinology, chemistry, Inborn error of metabolism, Female, France, business, Kynurenine, Blood Chemical Analysis, Cohort study, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd8b504534924f78c23dce3542ebd93Test
https://pubmed.ncbi.nlm.nih.gov/32392388Test -
2
المؤلفون: Gérard Besson, Véronique Ducros, Lysiane Boulet, Patrice Faure, Christelle Corne
المصدر: Annales de biologie clinique. 76:150-156
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Phenylalanine hydroxylase, Population, Phenylalanine, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Predictive Value of Tests, Reference Values, Tandem Mass Spectrometry, Phenylketonurias, Internal medicine, medicine, Humans, education, education.field_of_study, biology, business.industry, Tryptophan, General Medicine, Metabolism, Middle Aged, Tryptophan Metabolism, medicine.disease, Endocrinology, chemistry, Inborn error of metabolism, Case-Control Studies, Metabolome, biology.protein, Female, business, Blood Chemical Analysis, Kynurenine, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d063a4cc7d1793a4751b3ab44e2271dTest
https://doi.org/10.1684/abc.2018.1334Test -
3
المؤلفون: Heloise Pierdet, Claire Douillard, Dominique Roland, Fanny Duval, Yann Nadjar, Giovanni Castelnovo, Daniele Mandia, Philippe Giral, Jean-Michel Lecerf, Jonathan Curot, Annabelle Chaussenot, Gérard Besson, Foudil Lamari
المصدر: Journal of neurology. 266(8)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cerebrotendineous xanthomatosis, Population, Cholic Acid, Cerebrotendinous Xanthomatosis, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Chenodeoxycholic acid, medicine, Humans, 030212 general & internal medicine, Cognitive decline, Adverse effect, education, Retrospective Studies, education.field_of_study, business.industry, Cholestanol, Cholic acid, Xanthomatosis, Cerebrotendinous, Middle Aged, medicine.disease, Cholesterol, Treatment Outcome, Neurology, chemistry, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cc4a920e3fe10a22418c105b2f29b3Test
https://pubmed.ncbi.nlm.nih.gov/31781930Test -
4
المؤلفون: Patrick Vourc'h, Gérard Besson, Charlotte Veyrat-Durebex, Olivier Augereau, Philippe Corcia, William Camu, Peter M. Andersen, Paul H. Gordon, Christian R. Andres, Catherine Antar, François Salachas, Nathalie Bernard-Marissal, Claire Sunyach, Vincent Meininger, Joelle Khederchah, Kevin Mouzat, Brigitte Pettmann, Yves Olivier Guettard, Hélène Blasco
المصدر: Human Mutation. 34:953-960
مصطلحات موضوعية: Male, Population, Mutation, Missense, Excitotoxicity, Muscle Proteins, Biology, medicine.disease_cause, Mice, Genetics, medicine, Animals, Humans, Missense mutation, Axon, education, Cells, Cultured, Genetics (clinical), Motor Neurons, Sweden, education.field_of_study, Cell Death, Amyotrophic Lateral Sclerosis, Neurodegeneration, Glutamate receptor, Motor neuron, medicine.disease, Axons, medicine.anatomical_structure, Axoplasmic transport, Female, France
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0016efab20847bd8e2485136d8a5c8fTest
https://doi.org/10.1002/humu.22329Test