La colonne Atlantis dC18 a une longueur de 10 cm, un diamètre interne de 2.1 mm et une granulométrie de 5 µm. Deux phases mobiles sont utilisées avec un gradient d'élution. La phase aqueuse A est composée d'eau milliQ, d'acide formique 0, Atlantis dC, vol.18 ,
Une solution dite « d'essai » composée d'un mélange de valine (100 µmol/L), isoleucine (100 µmol/L) et leucine ,
Maple syrup disease : Its come a long way, The Journal of Pediatrics. Mars, pp.17-19, 1998. ,
Aout 1998, mise à jour en mars, pp.1-3, 2002. ,
Maladies h??r??ditaires du m??tabolisme et apports de la m??tabolomique, m??decine/sciences, vol.21, issue.5 ,
DOI : 10.1051/medsci/2005215512
Maladies héréditaires du métabolisme. Des médicaments au service de l'humanité. pp1-2. Disponible sur http ,
les maladies héréditaires du métabolisme à l'âge adulte, Inborn errors of métabolism in adults. Annales d'endocrinologie, pp.14-24, 2009. ,
Maladies héréditaires du métabolisme Traité de médecine, 3 ème édition : médecine-sciences Flammarion, pp.1521-1560, 1996. ,
Les maladies h??r??ditaires du m??tabolisme ?? l?????ge adulte, Annales d'Endocrinologie, vol.70, issue.1, pp.366-375, 1998. ,
DOI : 10.1016/j.ando.2008.12.004
Metabolic diseases : diagnosis and treatment, pp.2-48, 2006. ,
Clinical approach to treatable inborn metabolic diseases: An introduction, Journal of Inherited Metabolic Disease, vol.77, issue.2-3, pp.261-274, 2006. ,
DOI : 10.1007/s10545-006-0358-0
Therapy Insight: inborn errors of metabolism in adult neurology???a clinical approach focused on treatable diseases, Nature Clinical Practice Neurology, vol.116, issue.5, pp.279-290, 2007. ,
DOI : 10.1038/ncpneuro0494
Peripheral neuropathy and inborn errors of metabolism in adults, Journal of Inherited Metabolic Disease, vol.126, issue.5, pp.642-653, 2007. ,
DOI : 10.1007/s10545-007-0684-x
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults, Journal of Inherited Metabolic Disease, vol.55, issue.5, pp.631-641, 2007. ,
DOI : 10.1007/s10545-007-0661-4
Epilepsy and inborn errors of metabolism: a diagnosis approach, Journal Inherit Metabolic Disease, pp.846-854, 2007. ,
Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach, Journal of Inherited Metabolic Disease, vol.132, issue.Pt 8, pp.854-855, 2007. ,
DOI : 10.1007/s10545-007-0745-1
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach, Journal of Inherited Metabolic Disease, vol.47, issue.Supplement 1, pp.308-318, 2008. ,
DOI : 10.1007/s10545-008-0854-5
Leukoencephalopathies associated with inborn errors of metabolism in adults, Journal of Inherited Metabolic Disease, vol.47, issue.Supplement 2, pp.295-307, 2008. ,
DOI : 10.1007/s10545-008-0778-0
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism, Journal of Inherited Metabolic Disease, vol.28, issue.3, pp.321-324, 1990. ,
DOI : 10.1007/BF01799385
Mitochondrial Respiratory-Chain Diseases, New England Journal of Medicine, vol.348, issue.26, pp.2656-2668, 2009. ,
DOI : 10.1056/NEJMra022567
URL : https://hal.archives-ouvertes.fr/hal-00537248
Insights into diagnosis ant treatment of lysosomale storage diseases. Arch Neurologic, pp.322-328, 2003. ,
The carbonhydrate-deficient glycoprotein syndrome : a new inherited multisystemic disease with severe nervous involvement, Acta paediat Scand, pp.375-371, 1991. ,
Métabolisme des acides amines. Université Victor Segalen, cours 1 ère année, pp.1-10, 2007. ,
Métabolisme des acides aminés. Faculté de médecine de Rennes, biochimie moléculaire et biochimie métabolique, PCEM1, pp.1-22, 2009. ,
Métabolisme des acides aminés et cycle de l'urée Chimie biochimie et biochimie moléculaire, 1 ère année santé, 2 ème édition. Omnisciences, pp.407-428, 2010. ,
Biochimie, 6ème édition. Medecine-sciences, 2007. ,
Branched-chain organics acidurias, Disponible sur, pp.65-74, 2002. ,
Disorders of branched-chain amino acid and keto acid metabolism. The metabolic and molecular bases of inherited disease, pp.1239-1277, 1995. ,
Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to Upper levels of intake in healthy ,
Maple syrup urine disease Disponible sur, Genereview, 1319. ,
Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease, Journal of Separation Science, vol.875, issue.6, pp.631-639, 2011. ,
DOI : 10.1002/jssc.201000573
Prise en charge médicale et diététique des maladies héréditaires du métabolisme, pp.107-151, 2013. ,
DOI : 10.1007/978-2-8178-0046-2
The ross metabolic formula system, nutrition support protocols ,
diagnosis and treatment of maple syrup urine disease: a study of 36 patients. Pediatries, pp.999-1008, 2002. ,
Combined nutritional support and continuous extracorporal removal therapy in the severe acute of marple syrup urine disease, Intensive care Med, vol.27, pp.806-1798, 2001. ,
Maladies héréditaires du métabolisme et apports de la métabolomique ,
Chromatographie : théorie, pp.1-50 ,
Méthodes physique de séparation et d'analyse et méthodes de dosage des biomolécules, Bmedia. Disponible, vol.sur ,
Cours Medecine info Mise à jour avril 2010 Disponible sur ,
La chromatographie des acides aminés Laboratoire de biochimie médicale, Hôpital Necker-Enfants malades, paris, pp.1-39 ,
La spectrométrie de masse tandem appliquée au dépistage néonatal des maladies héréditaires du métabolisme : le point sur les utilisations actuelles, Ann Biol Clin, pp.269-277, 2004. ,
intrdoduction à l'instrumentation utile en analyse protéomique disponible sur : http://www.proteomics.necker.fr/pdfs/ModuleproteomiqueParisDescartesOLaprevotte.pdf [45] School of chemistry, Proteomics.Necker, p.19 ,
Evaluation multi-sites de la précision et la reproductibilité des mesures multiples sur la base de surveillance de réaction de protéines dans le plasma ,
ChapitreIV icsn, cnrs. pp24-31 Disponible sur : http://www.icsn.cnrs-gif.fr/IMG/pdf/chapitre4.pdf [48] La protéomique ,
Disponible sur : http://www.ac-nancymetz .fr/enseign ,
Newborn screening, Acides amines et acylcarnitines Masschrom® sur sang séché sans dérivation. Chromsystems Diagnostics by HPLC and LC/MS-MS, pp.1-34, 2008. ,
Method for the quantification of underivatized amino acids on dry blood spots from newborn screening by HPLC???ESI???MS/MS, Journal of Chromatography B, vol.831, issue.1-2, pp.267-273, 2006. ,
DOI : 10.1016/j.jchromb.2005.12.015
A new reversed-phase liquid chromatographic/tandem mass spectrometric method for analysis of underivatised amino acids: evaluation for the diagnosis and the management of inherited disorders of amino acid metabolism, Rapid Communications in Mass Spectrometry, vol.332, issue.22, pp.3287-3297, 2005. ,
DOI : 10.1002/rcm.2197
ion-pair reversed-phase liquid chromatographyelectrospray mass spectrometry for the analysis of underivatized small peptides, Journal of chromatography, pp.173-185, 2002. ,
A comparative study of commercial liquid chromatographic detectors for the analysis of underivatized amino acids, Journal of chromatography. Juin, pp.9-21, 2002. ,
Enhanced sensitivity for peptide mapping with electrospray liquid chromatography-mass spectrometry in the presence of signal suppression due to trifluoroacetic acid-containing mobile phases, Journal of Chromatography A, vol.712, issue.1, p.177, 0190. ,
DOI : 10.1016/0021-9673(95)00175-M
Validation of accuracy-based amino acid reference materials in dried blood spots by tandem mass spectrometry for newborn screening assays, Clinical chemistry. Août, pp.1269-1277, 1999. ,
The stability of markers in dried-blood spots for recommended newborn screnning disorders in the United States, Clinical biochemistry ,
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD) Clinical chemistry, pp.542-549, 2008. ,
desirable specification for total error, imprecision and bias, derived from intra-and inter-individual biologic variation, Westgard QC, vol.59, 1999. ,