C. Ainsi-le and . De, Grenoble est désormais en mesure de proposer un bilan complet du métabolisme intermédiaire et peut répondre de ce fait à l

D. Lonlay, P. Djouadi, F. Bonnefont, J. Saudubray, J. Bastin et al., Mitochondrial betaoxidation of fatty acids: an essential metabolic pathway of muscular function, Arch Pediatr

H. Autorité and D. Santé, Evaluation a priori de l'extension du dépistage néonatal à une ou plusieurs erreurs innées du métabolisme par la technique de spectrométrie de masse en tandem en population générale en France 1er volet : dépistage du déficit en MCAD. Recommandations en santé publique

. Mitteilung and . Uber-das-carnitin, Hoppe-Seyler's Zeitschrift für physiologische Chemie, Sendju Y. Uber die Oxyaminoverbindungen, welche die Biuretreaktion ziegen. III. Spaltung der m-amino-b-oxybuttersaure in die optisch-aktiven Komponenten, pp.326-330, 1905.

. Hoppe-seyler-'s-zeitschrift-für-physiologische-chemie, P. Bhattacharyya, H. Carter, G. Fraenkel, K. Weidman et al., The identity of vitamin BT with carnitine Chemical studies on vitamin BT isolation and characterization as carnitine, Arch Biochem Biophys Arch Biochem Biophys. Juill, vol.1693538, issue.1, pp.263-277241, 1927.

I. Fritz, The effect of muscle extracts on the oxidation of palmitic acid by liver slices and homogenates, R. On the absolute configuration of L-carnitine (vitamine BT), pp.367-385, 1955.

A. Engel and C. Angelini, Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome, Science, vol.179, issue.4076, pp.899-902, 1973.
DOI : 10.1126/science.179.4076.899

S. Dimauro and P. Dimauro, Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria, Science, vol.182, issue.4115, pp.929-931, 1973.
DOI : 10.1126/science.182.4115.929

D. Devivo and I. Tein, Primary and secondary disorders of carnitine. International pediatrics : the journal of the Miami Children's Hospital, p.8, 1990.

C. Rebouche, Carnitine function and requirements during the life cycle, FASEB J. Déc, vol.6, issue.15, pp.3379-3386, 1992.

A. Steiber, J. Kerner, and C. Hoppel, Carnitine: a nutritional, biosynthetic, and functional perspective, Molecular Aspects of Medicine, vol.25, issue.5-6, pp.5-6455, 2004.
DOI : 10.1016/j.mam.2004.06.006

F. Vaz and R. Wanders, Carnitine biosynthesis in mammals, Biochemical Journal, vol.361, issue.3, pp.417-429, 2002.
DOI : 10.1042/bj3610417

J. Flanagan, P. Simmons, J. Vehige, M. Willcox, and Q. Garrett, Role of carnitine in disease, Nutrition & Metabolism, vol.7, issue.1, p.30, 2010.
DOI : 10.1186/1743-7075-7-30

I. Tamai, R. Ohashi, J. Nezu, H. Yabuuchi, A. Oku et al., Molecular and Functional Identification of Sodium Ion-dependent, High Affinity Human Carnitine Transporter OCTN2, Journal of Biological Chemistry, vol.273, issue.32, pp.20378-20382, 1998.
DOI : 10.1074/jbc.273.32.20378

J. Saleh, A. Sniderman, and K. Cianflone, Regulation of plasma fatty acid metabolism, Clinica Chimica Acta, vol.286, issue.1-2
DOI : 10.1016/S0009-8981(99)00099-6

S. Houten and R. Wanders, A general introduction to the biochemistry of mitochondrial fatty acid ??-oxidation, Journal of Inherited Metabolic Disease, vol.297, issue.Suppl 1, pp.469-477, 2010.
DOI : 10.1007/s10545-010-9061-2

S. Colucci, G. Mori, S. Vaira, G. Brunetti, G. Greco et al., L-Carnitine and Isovaleryl L-Carnitine Fumarate Positively Affect Human Osteoblast Proliferation and Differentiation In Vitro, Calcified Tissue International, vol.279, issue.6, pp.458-465, 2005.
DOI : 10.1007/s00223-004-0147-4

J. Mcgarry and N. Brown, The Mitochondrial Carnitine Palmitoyltransferase System - From Concept to Molecular Analysis, European Journal of Biochemistry, vol.281, issue.1, pp.1-14, 1997.
DOI : 10.1016/0163-7827(95)00011-9

C. Hoppel, The role of carnitine in normal and altered fatty acid metabolism, American Journal of Kidney Diseases, vol.41, issue.4, pp.4-12, 2003.
DOI : 10.1016/S0272-6386(03)00112-4

A. Arduini, G. Mancinelli, G. Radatti, S. Dottori, F. Molajoni et al., Role of carnitine and carnitine palmitoyltransferase as integral components of the pathway for membrane phospholipid fatty acid turnover in intact human erythrocytes, J Biol Chem. Juin, vol.267, issue.18, pp.12673-12681, 1992.

F. Knoop, Der Abbau aromatischer Fettsäuren im Tierkörper, Beitr Chem Physiol Pathol, vol.6, pp.150-162, 1904.

M. Bennett, Pathophysiology of fatty acid oxidation disorders, Journal of Inherited Metabolic Disease, vol.25, issue.5, pp.533-537, 2010.
DOI : 10.1007/s10545-010-9170-y

J. Fernandes, L. Saudubray, G. Den-berghe, and J. Walter, Inborn Metabolic Diseases: diagnosis and treatment; 4ème édition, p.561, 2006.

M. Académie-de, http://pedagogie.ac-montpellier.fr/Disciplinesstibiotechn documents/Fiche_corps_cetoniques.pdf (consulté en juillet, 2011.

B. Hecketsweiler, Voyage en biochimie : Circuits en biochimie humaine, nutritionnelle et métabolique, p.72, 2004.

A. Koizumi, J. Nozaki, T. Ohura, T. Kayo, Y. Wada et al., Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency, Human Molecular Genetics, vol.8, issue.12, pp.2247-2254, 1999.
DOI : 10.1093/hmg/8.12.2247

C. Stanley, Carnitine Deficiency Disorders in Children, Annals of the New York Academy of Sciences, vol.93, issue.1, pp.42-51, 2004.
DOI : 10.1196/annals.1320.004

I. Tein, D. Vivo, D. Bierman, F. Pulver, P. Meirleir et al., Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy, Pediatric Research, vol.28, issue.3, pp.247-255, 1990.
DOI : 10.1203/00006450-199009000-00020

S. Cederbaum, S. Koo-mccoy, I. Tein, B. Hsu, A. Ganguly et al., Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency, Molecular Genetics and Metabolism, vol.77, issue.3, pp.195-201, 2002.
DOI : 10.1016/S1096-7192(02)00169-5

J. Whitfield, T. Smith, H. Sollohub, L. Sweetman, and C. Roe, Clinical Effects of L-Carnitine Supplementation on Apnea and Growth in Very Low Birth Weight Infants, PEDIATRICS, vol.111, issue.3, pp.477-482, 2003.
DOI : 10.1542/peds.111.3.477

B. Belay, N. Esteban-cruciani, C. Walsh, and F. Kaskel, The use of levo-carnitine in children with renal disease: a review and a call for future studies, Pediatric Nephrology, vol.17, issue.3, pp.308-317, 2006.
DOI : 10.1007/s00467-005-2085-4

D. Rudman, C. Sewell, and J. Ansley, Deficiency of Carnitine in Cachectic Cirrhotic Patients, Journal of Clinical Investigation, vol.60, issue.3, pp.716-723, 1977.
DOI : 10.1172/JCI108824

S. Ahmad, L-Carnitine in Dialysis Patients, Seminars in Dialysis, vol.10, issue.suppl 2, pp.209-217, 2001.
DOI : 10.1046/j.1525-139X.2001.00055.x

B. Bowyer, C. Fleming, D. Ilstrup, J. Nelson, S. Reek et al., Plasma carnitine levels in patients receiving home parenteral nutrition, Am J Clin Nutr. Janv, vol.43, issue.1, pp.85-91, 1986.

R. Ringseis, N. Hanisch, G. Seliger, and K. Eder, Low availability of carnitine precursors as a possible reason for the diminished plasma carnitine concentrations in pregnant women, BMC Pregnancy and Childbirth, vol.50, issue.1, pp.10-17, 2010.
DOI : 10.1097/GRF.0b013e31815a5494

M. Silva, C. Aires, P. Luis, J. Ruiter, L. Ijlst et al., Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review, Journal of Inherited Metabolic Disease, vol.48, issue.3, pp.205-216, 2008.
DOI : 10.1007/s10545-008-0841-x

E. Scruggs and A. Naylor, Mechanisms of Zidovudine-Induced Mitochondrial Toxicity and Myopathy, Pharmacology, vol.82, issue.2, pp.83-88, 2008.
DOI : 10.1159/000134943

S. Rose, T. Stokes, S. Patel, M. Cooper, D. Betteridge et al., Carnitine deficiency associated with long-term pivampicillin treatment: the effect of a replacement therapy regime., Postgraduate Medical Journal, vol.68, issue.805, pp.932-934, 1992.
DOI : 10.1136/pgmj.68.805.932

G. Peluso, R. Nicolai, E. Reda, P. Benatti, A. Barbarisi et al., Cancer and anticancer therapy-induced modifications on metabolism mediated by carnitine system, Journal of Cellular Physiology, vol.33, issue.3, pp.339-350, 2000.
DOI : 10.1002/(SICI)1097-4652(200003)182:3<339::AID-JCP4>3.0.CO;2-B

W. Rhead, B. Amendt, K. Fritchman, and S. Felts, Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts, Science, vol.221, issue.4605, pp.73-75, 1983.
DOI : 10.1126/science.6857268

C. Stanley, D. Hale, P. Coates, C. Hall, B. Corkey et al., Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Children with Non-Ketotic Hypoglycemia and Low Carnitine Levels, Pediatric Research, vol.17, issue.11, pp.877-884, 1983.
DOI : 10.1203/00006450-198311000-00008

D. Moczulski, I. Majak, and D. Mamczur, An overview of beta-oxidation disorders, Postepy Hig Med Dosw (Online), vol.63, pp.266-277, 2009.

M. Kompare and W. Rizzo, Mitochondrial Fatty-Acid Oxidation Disorders, Seminars in Pediatric Neurology, vol.15, issue.3, pp.140-149, 2008.
DOI : 10.1016/j.spen.2008.05.008

J. Saudubray, D. Martin, D. Lonlay, P. Touati, G. Poggi-travert et al., Recognition and management of fatty acid oxidation defects: a series of 107 patients, J Inherit Metab Dis. Juin, vol.22, issue.4, pp.488-502, 1999.

D. Matern and . Acylcarnitines, including In Vitro loading tests; dans Laboratory Guide to the Methods in, Biochemical Genetics par Blau. N, Duran. M, Gison. KM, pp.171-206, 2008.

R. Wanders, J. Ruiter, L. Ijlst, H. Waterham, and S. Houten, The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results, Journal of Inherited Metabolic Disease, vol.34, issue.5, pp.479-494, 2010.
DOI : 10.1007/s10545-010-9104-8

J. Bonnefont, F. Djouadi, C. Prip-buus, S. Gobin, A. Munnich et al., Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects, Molecular Aspects of Medicine, vol.25, issue.5-6, pp.5-6495, 2004.
DOI : 10.1016/j.mam.2004.06.004

P. Bougnères, J. Saudubray, C. Marsac, O. Bernard, M. Odièvre et al., Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency, The Journal of Pediatrics, vol.98, issue.5, pp.742-746, 1981.
DOI : 10.1016/S0022-3476(81)80834-7

M. Bennett, S. Narayan, A. Santani, . Ra, T. Bird et al., Carnitine Palmitoyltransferase 1A Deficiency; dir. dans: Pagon, SourceGeneReviews [Internet], 1993.

A. Bergman, R. Donckerwolcke, M. Duran, J. Smeitink, B. Mousson et al., Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency, Pediatric Research, vol.36, issue.5, pp.582-588, 1994.
DOI : 10.1203/00006450-199411000-00007

N. Longo, D. S. Filippo, C. Pasquali, and M. , Disorders of carnitine transport and the carnitine cycle, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.138, issue.2, pp.77-85, 2006.
DOI : 10.1002/ajmg.c.30087

G. Hug, K. Bove, and S. Soukup, Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase II, New England Journal of Medicine, vol.325, issue.26, pp.1862-1864, 1991.
DOI : 10.1056/NEJM199112263252607

S. Olpin, Implications of impaired ketogenesis in fatty acid oxidation disorders, Prostaglandins, Leukotrienes and Essential Fatty Acids, vol.70, issue.3, pp.293-308, 2004.
DOI : 10.1016/j.plefa.2003.06.003

C. Stanley, D. Hale, G. Berry, S. Deleeuw, J. Boxer et al., A Deficiency of Carnitine???Acylcarnitine Translocase in the Inner Mitochondrial Membrane, New England Journal of Medicine, vol.327, issue.1, pp.19-23, 1992.
DOI : 10.1056/NEJM199207023270104

B. Wilcken, Fatty acid oxidation disorders: outcome and long-term prognosis, Journal of Inherited Metabolic Disease, vol.37, issue.Suppl, pp.501-506, 2010.
DOI : 10.1007/s10545-009-9001-1

T. Aoyama, Y. Uchida, R. Kelley, M. Marble, K. Hofman et al., A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase, Biochemical and Biophysical Research Communications, vol.191, issue.3, pp.1369-1372, 1993.
DOI : 10.1006/bbrc.1993.1368

C. Bertrand, C. Largillière, M. Zabot, M. Mathieu, and C. Vianey-saban, Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1180, issue.3, pp.327-329, 1993.
DOI : 10.1016/0925-4439(93)90058-9

. N. Leslie, . B. Tinkle, . A. Strauss, . K. Shooner, . Zhang et al., Very Long Chain Acyl- Coenzyme A Dehydrogenase Deficiency. Dir, SourceGeneReviews [Internet], 1993.

K. Sim, K. Carpenter, J. Hammond, J. Christodoulou, and B. Wilcken, Quantitative fibroblast acylcarnitine profiles in mitochondrial fatty acid beta-oxidation defects: phenotype/metabolite correlations, Mol Genet Metab. Août, vol.76, issue.4, pp.327-334, 2002.

S. Grosse, M. Khoury, C. Greene, K. Crider, and R. Pollitt, The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update, Genetics in Medicine, vol.67, issue.4, pp.205-212, 2006.
DOI : 10.1097/01.gim.0000204472.25153.8d

N. Gregersen, R. Lauritzen, and K. Rasmussen, Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria, Clinica Chimica Acta, vol.70, issue.3, pp.417-425, 1976.
DOI : 10.1016/0009-8981(76)90355-7

U. Schatz and R. Ensenauer, The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population, Journal of Inherited Metabolic Disease, vol.108, issue.Suppl 3, pp.513-520, 2010.
DOI : 10.1007/s10545-010-9115-5

B. Amendt, C. Greene, L. Sweetman, J. Cloherty, V. Shih et al., Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients., Journal of Clinical Investigation, vol.79, issue.5
DOI : 10.1172/JCI112953

B. Van-maldegem, R. Wanders, and F. Wijburg, Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency, Journal of Inherited Metabolic Disease, vol.95, issue.Suppl 3, pp.507-511, 2010.
DOI : 10.1007/s10545-010-9080-z

M. Bennett, M. Weinberger, J. Kobori, R. P. Burlina, and A. , Mitochondrial Short-Chain L-3-Hydroxyacl-Coenzyme A Dehydrogenase Deficiency: A New Defect of Fatty Acid Oxidation, Pediatric Research, vol.32, issue.1, pp.185-188, 1996.
DOI : 10.1203/00006450-199601000-00031

U. Spiekerkoetter, Z. Khuchua, Z. Yue, M. Bennett, and A. Strauss, General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either ??- or ??-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover, Pediatric Research, vol.187, issue.2, pp.190-196, 2004.
DOI : 10.1203/01.PDR.0000103931.80055.06

R. Wanders, M. Duran, L. Ijlst, D. Jager, J. et al., SUDDEN INFANT DEATH AND LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE, The Lancet, vol.334, issue.8653, pp.52-53, 1989.
DOI : 10.1016/S0140-6736(89)90300-0

R. Wanders, L. Ijlst, F. Poggi, J. Bonnefont, A. Munnich et al., Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid ??-oridation, Biochemical and Biophysical Research Communications, vol.188, issue.3
DOI : 10.1016/0006-291X(92)91350-Y

H. Przyrembel, U. Wendel, K. Becker, H. Bremer, L. Bruinvis et al., Glutaric aciduria type II: Report on a previously undescribed metabolic disorder, Clinica Chimica Acta, vol.66, issue.2, pp.227-239, 1976.
DOI : 10.1016/0009-8981(76)90060-7

R. Olsen, S. Olpin, B. Andresen, Z. Miedzybrodzka, M. Pourfarzam et al., ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency, Brain, vol.130, issue.8, pp.2045-2054, 2007.
DOI : 10.1093/brain/awm135

M. Lindner, G. Hoffmann, and D. Matern, Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting, Journal of Inherited Metabolic Disease, vol.47, issue.Suppl 3, pp.521-526, 2010.
DOI : 10.1007/s10545-010-9076-8

H. Ogier-de-baulny and J. Saudubray, Branched-chain organic acidurias, Seminars in Neonatology, vol.7, issue.1, pp.65-74, 2002.
DOI : 10.1053/siny.2001.0087

C. Dionisi-vici, F. Deodato, W. Röschinger, W. Rhead, and B. Wilcken, ???Classical??? organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry, Journal of Inherited Metabolic Disease, vol.34, issue.2-3, pp.2-3383, 2006.
DOI : 10.1007/s10545-006-0278-z

V. Levrat, I. Forest, A. Fouilhoux, C. Acquaviva, C. Vianey-saban et al., Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?, Orphanet Journal of Rare Diseases, vol.3, issue.1, 2008.
DOI : 10.1186/1750-1172-3-2

D. Dietzen, R. P. Whitley, R. Rhead, W. Hannon, W. Garg et al., National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-Up Testing for Metabolic Disease Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry; Executive Summary, Clinical Chemistry, vol.55, issue.9, pp.1615-1626, 2009.
DOI : 10.1373/clinchem.2009.131300

S. Kölker, E. Christensen, J. Leonard, C. Greenberg, A. Boneh et al., Diagnosis and management of glutaric aciduria type I ??? revised recommendations, Journal of Inherited Metabolic Disease, vol.37, issue.3, pp.677-694, 2011.
DOI : 10.1007/s10545-011-9289-5

S. Kölker, E. Christensen, J. Leonard, C. Greenberg, A. Burlina et al., Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), Journal of Inherited Metabolic Disease, vol.37, issue.1, pp.5-22, 2007.
DOI : 10.1007/s10545-006-0451-4

G. Duranti, S. Boenzi, C. Rizzo, L. Ravà, V. Ciommo et al., Urine acylcarnitine analysis by ESI???MS/MS: A new tool for the diagnosis of peroxisomal biogenesis disorders, Clinica Chimica Acta, vol.398, issue.1-2, pp.86-89, 2008.
DOI : 10.1016/j.cca.2008.08.018

K. Sim, J. Hammond, and B. Wilcken, Strategies for the diagnosis of mitochondrial fatty acid ??-oxidation disorders, Clinica Chimica Acta, vol.323, issue.1-2, pp.37-58, 2002.
DOI : 10.1016/S0009-8981(02)00182-1

L. Wan and R. Hubbard, Determination of free and total carnitine with a random-access chemistry analyzer, Clin Chem. Avr, vol.44, issue.4, pp.810-816, 1998.

E. Hoffmann and V. Stroobant, Mass Spectrometry, 2007.
DOI : 10.1002/0471238961.1301191913151518.a01.pub2

J. Watson, Introduction to Mass Spectrometry Lippincott Raven; 3ème édition, 1997.

. Bioforma, Protéomique, Spectrométrie de masse et analyses multiples, 2010.

D. Cheillan, S. Cognat, C. Vianey-saban, I. Maire, and C. Dorche, Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments, Ann Biol Clin, vol.62, issue.3, pp.269-277, 2004.

L. Vernez, M. Wenk, and S. Krähenbühl, Determination of carnitine and acylcarnitines in plasma by high-performance liquid chromatography/electrospray ionization ion trap tandem mass spectrometry, Rapid Communications in Mass Spectrometry, vol.18, issue.11, pp.1233-1238, 2004.
DOI : 10.1002/rcm.1470

A. Ghoshal, T. Guo, N. Soukhova, and S. Soldin, Rapid measurement of plasma acylcarnitines by liquid chromatography???tandem mass spectrometry without derivatization, Clinica Chimica Acta, vol.358, issue.1-2
DOI : 10.1016/j.cccn.2005.02.011

J. Osorio, Effect of acetonitrile concentration on acylcarnitines measurement by tandem mass spectrometry, Biosalud, vol.9, issue.1, pp.9-16, 2010.

P. Rinaldo, T. Cowan, and D. Matern, Acylcarnitine profile analysis, Genetics in Medicine, vol.6, issue.2, pp.151-156, 2008.
DOI : 10.1097/GIM.0b013e3181614289

. Vianey-saban, C; Acylcarnitine profile Which method? Diagnostic value, pitfalls

D. Chace, T. Kalas, and E. Naylor, Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns, Clinical Chemistry, vol.49, issue.11, pp.1797-1817, 2003.
DOI : 10.1373/clinchem.2003.022178

V. Jesús, D. Chace, T. Lim, J. Mei, and W. Hannon, Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry, Clin Chim Acta. Mai, vol.411, pp.9-10684, 2010.

C. Vianey-saban, S. Boyer, V. Levrat, and D. Cheillan, Interference of Cefotaxime in plasma acylcarnitine profile mimicking an increase of 3-hydroxypalmitoleylcarnitine (C16:1- OH) using butyl esters, J Inherit Metab Dis, vol.27, p.94, 2004.

J. Abdenur, N. Chamoles, A. Guinle, A. Schenone, and A. Fuertes, Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme, Journal of Inherited Metabolic Disease, vol.21, issue.6, pp.624-630, 1998.
DOI : 10.1023/A:1005424331822

T. Kuster, T. Torresani, P. Kleinert, S. Durka, F. Neuheiser et al., Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis, Journal of Inherited Metabolic Disease, vol.27, issue.5, pp.707-709, 2004.
DOI : 10.1023/B:BOLI.0000043024.08450.0c

V. Iacobazzi, M. Pasquali, R. Singh, D. Matern, R. P. et al., Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation, American Journal of Medical Genetics, vol.220, issue.2, pp.150-155, 2004.
DOI : 10.1002/ajmg.a.20573

B. Madea and F. Musshoff, Postmortem biochemistry, Forensic Science International, vol.165, issue.2-3, pp.165-171, 2007.
DOI : 10.1016/j.forsciint.2006.05.023

R. Barski, M. Henderson, S. Olpin, J. Walter, and T. Williams, Three cases of fat oxidation disorders causing sudden unexpected death in infancy that demonstrate the importance of sample timing post mortem, J Inherit Metab Dis, vol.34, p.154, 2011.

S. Forni, X. Fu, S. Palmer, and L. Sweetman, Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC???MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis, Molecular Genetics and Metabolism, vol.101, issue.1, pp.25-32, 2010.
DOI : 10.1016/j.ymgme.2010.05.012