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Items: 1 to 50 of 64

1.

Alterations of endogenous sphingolipid metabolism in cardiometabolic diseases: Towards novel therapeutic approaches.

Le Barz M, Boulet MM, Calzada C, Cheillan D, Michalski MC.

Biochimie. 2020 Feb;169:133-143. doi: 10.1016/j.biochi.2019.10.003. Epub 2019 Oct 12. Review.

PMID:
31614170
2.

Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.

Chong M, Yoon G, Susan-Resiga D, Chamberland A, Cheillan D, Paré G, Seidah NG.

J Med Genet. 2020 Jan;57(1):11-17. doi: 10.1136/jmedgenet-2019-106102. Epub 2019 Aug 7.

PMID:
31391289
3.

Milk polar lipids reduce lipid cardiovascular risk factors in overweight postmenopausal women: towards a gut sphingomyelin-cholesterol interplay.

Vors C, Joumard-Cubizolles L, Lecomte M, Combe E, Ouchchane L, Drai J, Raynal K, Joffre F, Meiller L, Le Barz M, Gaborit P, Caille A, Sothier M, Domingues-Faria C, Blot A, Wauquier A, Blond E, Sauvinet V, Gésan-Guiziou G, Bodin JP, Moulin P, Cheillan D, Vidal H, Morio B, Cotte E, Morel-Laporte F, Laville M, Bernalier-Donadille A, Lambert-Porcheron S, Malpuech-Brugère C, Michalski MC.

Gut. 2020 Mar;69(3):487-501. doi: 10.1136/gutjnl-2018-318155. Epub 2019 Jun 12.

4.

Large triglyceride-rich lipoproteins from fasting patients with type 2 diabetes activate platelets.

Boulet MM, Cheillan D, Di Filippo M, Buisson C, Michalski MC, Moulin P, Calzada C.

Diabetes Metab. 2020 Feb;46(1):54-60. doi: 10.1016/j.diabet.2019.03.002. Epub 2019 Apr 11.

PMID:
30981822
5.

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.

Thomas C, Durand-Zaleski I, Frenkiel J, Mirallié S, Léger A, Cheillan D, Picard C, Mahlaoui N, Riche VP, Roussey M, Sébille V, Rabetrano H, Dert C, Fischer A, Audrain M.

Clin Immunol. 2019 May;202:33-39. doi: 10.1016/j.clim.2019.03.012. Epub 2019 Apr 1.

PMID:
30946917
6.

Acute effects of milk polar lipids on intestinal tight junction expression: towards an impact of sphingomyelin through the regulation of IL-8 secretion?

Milard M, Penhoat A, Durand A, Buisson C, Loizon E, Meugnier E, Bertrand K, Joffre F, Cheillan D, Garnier L, Viel S, Laugerette F, Michalski MC.

J Nutr Biochem. 2019 Mar;65:128-138. doi: 10.1016/j.jnutbio.2018.12.007. Epub 2018 Dec 21.

PMID:
30685581
7.

Milk Polar Lipids in a High-Fat Diet Can Prevent Body Weight Gain: Modulated Abundance of Gut Bacteria in Relation with Fecal Loss of Specific Fatty Acids.

Milard M, Laugerette F, Durand A, Buisson C, Meugnier E, Loizon E, Louche-Pelissier C, Sauvinet V, Garnier L, Viel S, Bertrand K, Joffre F, Cheillan D, Humbert L, Rainteau D, Plaisancié P, Bindels LB, Neyrinck AM, Delzenne NM, Michalski MC.

Mol Nutr Food Res. 2019 Feb;63(4):e1801078. doi: 10.1002/mnfr.201801078. Epub 2019 Jan 25.

PMID:
30628158
8.

Sphingolipid-mediated inflammatory signaling leading to autophagy inhibition converts erythropoiesis to myelopoiesis in human hematopoietic stem/progenitor cells.

Orsini M, Chateauvieux S, Rhim J, Gaigneaux A, Cheillan D, Christov C, Dicato M, Morceau F, Diederich M.

Cell Death Differ. 2019 Sep;26(9):1796-1812. doi: 10.1038/s41418-018-0245-x. Epub 2018 Dec 13.

9.

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).

Audrain MAP, Léger AJC, Hémont CAF, Mirallié SM, Cheillan D, Rimbert MGM, Le Thuaut AM, Sébille-Rivain VA, Prat A, Pinel EMQ, Divry E, Dert CGL, Fournier MAG, Thomas CJC.

J Clin Immunol. 2018 Oct;38(7):778-786. doi: 10.1007/s10875-018-0550-7. Epub 2018 Sep 24.

PMID:
30251145
10.

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.

Bruneel A, Cholet S, Drouin-Garraud V, Jacquemont ML, Cano A, Mégarbané A, Ruel C, Cheillan D, Dupré T, Vuillaumier-Barrot S, Seta N, Fenaille F.

Electrophoresis. 2018 Dec;39(24):3123-3132. doi: 10.1002/elps.201800021. Epub 2018 Jul 3.

PMID:
29869806
11.

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, Latour P, Vianey-Saban C, Auray-Blais C, Froissart R.

J Inherit Metab Dis. 2018 May;41(3):457-477. doi: 10.1007/s10545-017-0126-3. Epub 2018 Mar 19. Review.

PMID:
29556840
12.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S.

Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16.

PMID:
29506905
13.

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Joncquel-Chevalier Curt M, Bout MA, Fontaine M, Kim I, Huet G, Bekri S, Morin G, Moortgat S, Moerman A, Cuisset JM, Cheillan D, Vamecq J.

Mol Genet Metab. 2018 Apr;123(4):463-471. doi: 10.1016/j.ymgme.2018.02.010. Epub 2018 Feb 16.

PMID:
29478817
14.

Management of X-linked adrenoleukodystrophy in Morocco: actual situation.

Benjelloun FZM, Kriouile Y, Cheillan D, Daoud-Tetouani H, Chabraoui L.

BMC Res Notes. 2017 Nov 7;10(1):567. doi: 10.1186/s13104-017-2902-4.

15.

Polar lipid composition of bioactive dairy co-products buttermilk and butterserum: Emphasis on sphingolipid and ceramide isoforms.

Bourlieu C, Cheillan D, Blot M, Daira P, Trauchessec M, Ruet S, Gassi JY, Beaucher E, Robert B, Leconte N, Bouhallab S, Gaucheron F, Gésan-Guiziou G, Michalski MC.

Food Chem. 2018 Feb 1;240:67-74. doi: 10.1016/j.foodchem.2017.07.091. Epub 2017 Jul 19.

PMID:
28946327
16.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.

17.

Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process.

Munck A, Delmas D, Audrézet MP, Lemonnier L, Cheillan D, Roussey M.

J Med Screen. 2018 Mar;25(1):6-12. doi: 10.1177/0969141317692611. Epub 2017 Apr 28.

18.

Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.

Demily C, Parant F, Cheillan D, Broussolle E, Pavec A, Guillaud O, Restier L; MOPSY Consortium, Lachaux A, Bost M.

Ann Gen Psychiatry. 2017 Apr 4;16:19. doi: 10.1186/s12991-017-0142-6. eCollection 2017.

19.

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R.

J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. Review.

PMID:
27393412
20.

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Renaud M, Guissart C, Mallaret M, Ferdinandusse S, Cheillan D, Drouot N, Muller J, Claustres M, Tranchant C, Anheim M, Koenig M.

J Neurol. 2016 Aug;263(8):1552-8. doi: 10.1007/s00415-016-8167-3. Epub 2016 May 26.

PMID:
27230853
21.

Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

Sorlin A, Briand G, Cheillan D, Wiedemann A, Montaut-Verient B, Schmitt E, Feillet F.

Neuropediatrics. 2016 Jun;47(3):179-81. doi: 10.1055/s-0036-1578798. Epub 2016 Mar 4.

PMID:
26947510
22.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

23.

Increased incidence of congenital hypothyroidism in France from 1982 to 2012: a nationwide multicenter analysis.

Barry Y, Bonaldi C, Goulet V, Coutant R, Léger J, Paty AC, Delmas D, Cheillan D, Roussey M.

Ann Epidemiol. 2016 Feb;26(2):100-105.e4. doi: 10.1016/j.annepidem.2015.11.005. Epub 2015 Dec 12.

PMID:
26775052
24.

Creatine biosynthesis and transport in health and disease.

Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J.

Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2. Review.

PMID:
26542286
25.

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G.

Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30.

PMID:
26138355
26.

Milk Polar Lipids Affect In Vitro Digestive Lipolysis and Postprandial Lipid Metabolism in Mice.

Lecomte M, Bourlieu C, Meugnier E, Penhoat A, Cheillan D, Pineau G, Loizon E, Trauchessec M, Claude M, Ménard O, Géloën A, Laugerette F, Michalski MC.

J Nutr. 2015 Aug;145(8):1770-7. doi: 10.3945/jn.115.212068. Epub 2015 Jul 1.

PMID:
26136586
27.

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation.

Lepais L, Cheillan D, Frachon SC, Hays S, Matthijs G, Panagiotakaki E, Abel C, Edery P, Rossi M.

Am J Med Genet A. 2015 Nov;167A(11):2748-54. doi: 10.1002/ajmg.a.37232. Epub 2015 Jun 30.

PMID:
26126960
28.

[The distinctive features of the Guthrie test in neonatology].

Roussey M, Cheillan D, Coutant R, Bardakdjian J.

Arch Pediatr. 2015 May;22(5 Suppl 1):79-80. doi: 10.1016/S0929-693X(15)30041-5. French. No abstract available.

PMID:
26112532
29.

[How to screen for metabolic diseases?].

Labarthe F, Tardieu M, Cheillan D.

Arch Pediatr. 2015 May;22(5 Suppl 1):77-8. doi: 10.1016/S0929-693X(15)30040-3. French. No abstract available.

PMID:
26112531
30.

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV.

Brain. 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6. Erratum in: Brain. 2015 Jul;138(Pt 7):e366.

31.

[Newborn screening in France: where are we going?].

Sarles J, Huet F, Cheillan D, Roussey M.

Arch Pediatr. 2014 Aug;21(8):813-5. doi: 10.1016/j.arcped.2014.05.004. Epub 2014 Jun 27. French. No abstract available.

PMID:
24986067
32.

Neonatal screening for cystic fibrosis: comparing the performances of IRT/DNA and IRT/PAP.

Sarles J, Giorgi R, Berthézène P, Munck A, Cheillan D, Dagorn JC, Roussey M.

J Cyst Fibros. 2014 Jul;13(4):384-90. doi: 10.1016/j.jcf.2014.01.004. Epub 2014 Feb 7.

33.

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS.

Hum Mutat. 2014 Apr;35(4):462-9. doi: 10.1002/humu.22511. Epub 2014 Mar 6.

PMID:
24415674
34.

[Do we need congenital adrenal hyperplasia screening for premature infants?].

Huet F, Godefroy A, Cheillan D, Somma C, Roussey M.

Arch Pediatr. 2014 Feb;21(2):233-6. doi: 10.1016/j.arcped.2013.11.002. Epub 2013 Dec 18. French.

PMID:
24361036
35.

Creatine and guanidinoacetate reference values in a French population.

Joncquel-Chevalier Curt M, Cheillan D, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Des Portes V, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Tardieu M, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Porchet N, Vianey-Saban C, Vamecq J.

Mol Genet Metab. 2013 Nov;110(3):263-7. doi: 10.1016/j.ymgme.2013.09.005. Epub 2013 Sep 16.

PMID:
24090707
36.

Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

Nouioua S, Cheillan D, Zaouidi S, Salomons GS, Amedjout N, Kessaci F, Boulahdour N, Hamadouche T, Tazir M.

Neuromuscul Disord. 2013 Aug;23(8):670-4. doi: 10.1016/j.nmd.2013.04.011. Epub 2013 Jun 14.

PMID:
23770102
37.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
38.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His.

J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1.

PMID:
23378603
39.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Cheillan D, Joncquel-Chevalier Curt M, Briand G, Salomons GS, Mention-Mulliez K, Dobbelaere D, Cuisset JM, Lion-François L, Portes VD, Chabli A, Valayannopoulos V, Benoist JF, Pinard JM, Simard G, Douay O, Deiva K, Afenjar A, Héron D, Rivier F, Chabrol B, Prieur F, Cartault F, Pitelet G, Goldenberg A, Bekri S, Gerard M, Delorme R, Tardieu M, Porchet N, Vianey-Saban C, Vamecq J.

Orphanet J Rare Dis. 2012 Dec 13;7:96. doi: 10.1186/1750-1172-7-96.

40.

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group.

Mol Genet Metab. 2012 Nov;107(3):438-47. doi: 10.1016/j.ymgme.2012.07.025. Epub 2012 Aug 6.

PMID:
22944367
41.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
42.

TMEM165 deficiency causes a congenital disorder of glycosylation.

Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G.

Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7.

43.

TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism.

De Larichaudy J, Zufferli A, Serra F, Isidori AM, Naro F, Dessalle K, Desgeorges M, Piraud M, Cheillan D, Vidal H, Lefai E, Némoz G.

Skelet Muscle. 2012 Jan 18;2(1):2. doi: 10.1186/2044-5040-2-2.

44.

[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].

Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D, Briand G, Jeannesson E, Vassault A, Vianey-Saban C; SFEIM (Société française pour l’étude des erreurs innées du métabolisme).

Arch Pediatr. 2012 Feb;19(2):184-93. doi: 10.1016/j.arcped.2011.10.025. Epub 2012 Jan 12. French.

PMID:
22244319
45.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P.

J Inherit Metab Dis. 2012 Jan;35(1):151-7. doi: 10.1007/s10545-011-9358-9. Epub 2011 Jun 10.

PMID:
21660517
46.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

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