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Items: 1 to 50 of 134

1.

Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A).

Fuchs NV, Schieck M, Neuenkirch M, Tondera C, Schmitz H, des Portes V, Germanaud D, Steinemann D, Göhring G, König R.

Stem Cell Res. 2019 Oct 15;41:101592. doi: 10.1016/j.scr.2019.101592. [Epub ahead of print]

2.

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Kim HG, Rosenfeld JA, Scott DA, Bénédicte G, Labonne JD, Brown J, McGuire M, Mahida S, Naidu S, Gutierrez J, Lesca G, des Portes V, Bruel AL, Sorlin A, Xia F, Capri Y, Muller E, McKnight D, Torti E, Rüschendorf F, Hummel O, Islam Z, Kolatkar PR, Layman LC, Ryu D, Kong IK, Madan-Khetarpal S, Kim CH.

Mol Autism. 2019 Oct 22;10:35. doi: 10.1186/s13229-019-0286-0. eCollection 2019.

3.

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Kuchenbuch M, Barcia G, Chemaly N, Carme E, Roubertie A, Gibaud M, Van Bogaert P, de Saint Martin A, Hirsch E, Dubois F, Sarret C, Nguyen The Tich S, Laroche C, des Portes V, Billette de Villemeur T, Barthez MA, Auvin S, Bahi-Buisson N, Desguerre I, Kaminska A, Benquet P, Nabbout R.

Brain. 2019 Oct 1;142(10):2996-3008. doi: 10.1093/brain/awz240.

PMID:
31532509
4.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group.

Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13.

PMID:
31410843
5.

Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography.

Atallah A, Guibaud L, Gaucherand P, Massardier J, des Portes V, Massoud M.

Prenat Diagn. 2019 Jun;39(7):536-543. doi: 10.1002/pd.5465. Epub 2019 May 29.

PMID:
31017299
6.

[Disabled child. Orientation and management].

Toulouse J, des Portes V.

Rev Prat. 2018 Oct;68(8):e327-e334. French. No abstract available.

PMID:
30869471
7.

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.

Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F.

Sci Rep. 2018 Nov 19;8(1):16970. doi: 10.1038/s41598-018-34978-4.

8.

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Assoum M, Lines MA, Elpeleg O, Darmency V, Whiting S, Edvardson S, Devinsky O, Heinzen E, Hernan RR, Antignac C, Deleuze JF, Des Portes V, Bertholet-Thomas A, Belot A, Geller E, Lemesle M, Duffourd Y, Thauvin-Robinet C, Thevenon J, Chung W, Lowenstein DH, Faivre L.

Am J Med Genet A. 2018 Nov;176(11):2470-2478. doi: 10.1002/ajmg.a.40357. Epub 2018 Sep 23.

PMID:
30244534
9.

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

Mathieu ML, de Bellescize J, Till M, Flurin V, Labalme A, Chatron N, Sanlaville D, Chemaly N, des Portes V, Ostrowsky K, Arzimanoglou A, Lesca G.

Eur J Paediatr Neurol. 2018 Nov;22(6):1124-1132. doi: 10.1016/j.ejpn.2018.07.004. Epub 2018 Jul 21.

PMID:
30126759
10.

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?

Curie A, Friocourt G, des Portes V, Roy A, Nazir T, Brun A, Cheylus A, Marcorelles P, Retzepi K, Maleki N, Bussy G, Paulignan Y, Reboul A, Ibarrola D, Kong J, Hadjikhani N, Laquerrière A, Gollub RL.

Neuroimage Clin. 2018 Apr 5;19:454-465. doi: 10.1016/j.nicl.2018.04.001. eCollection 2018.

11.

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Coton J, Labalme A, Till M, Bussy G, Krifi Papoz S, Lesca G, Heron D, Sanlaville D, Edery P, des Portes V, Rossi M.

Clin Case Rep. 2018 Mar 9;6(5):827-834. doi: 10.1002/ccr3.1450. eCollection 2018 May.

12.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G.

Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30.

13.

Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

Chatron N, Thibault L, Lespinasse J, Labalme A, Schluth-Bolard C, Till M, Edery P, Touraine R, des Portes V, Lesca G, Sanlaville D.

Mol Syndromol. 2017 Nov;8(6):325-330. doi: 10.1159/000479455. Epub 2017 Sep 7.

14.

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S.

Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Review.

PMID:
29217836
15.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

des Portes V, Rolland A, Velazquez-Dominguez J, Peyric E, Cordier MP, Gaucherand P, Massardier J, Massoud M, Curie A, Pellot AS, Rivier F, Lacalm A, Clément A, Ville D, Guibaud L.

Eur J Paediatr Neurol. 2018 Jan;22(1):82-92. doi: 10.1016/j.ejpn.2017.08.003. Epub 2017 Sep 5.

PMID:
28947381
16.

Certainty of genuine treatment increases drug responses among intellectually disabled patients.

Jensen KB, Kirsch I, Pontén M, Rosén A, Yang K, Gollub RL, des Portes V, Kaptchuk TJ, Curie A.

Neurology. 2017 May 16;88(20):1912-1918. doi: 10.1212/WNL.0000000000003934. Epub 2017 Apr 19.

17.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D.

J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8.

PMID:
28284480
18.

Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant.

Curie A, Lesca G, Bussy G, Manificat S, Arnaud V, Gonzalez S, Revol O, Calender A, Gérard D, des Portes V.

Psychiatr Genet. 2017 Jun;27(3):105-109. doi: 10.1097/YPG.0000000000000165.

PMID:
28230711
19.

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G.

Eur J Hum Genet. 2017 Feb;25(3):376-380. doi: 10.1038/ejhg.2016.163. Epub 2017 Jan 4.

20.

[Developmental approach of executive functions: From infancy to adolescence].

Fourneret P, des Portes V.

Arch Pediatr. 2017 Jan;24(1):66-72. doi: 10.1016/j.arcped.2016.10.003. Epub 2016 Nov 21. French.

PMID:
27884535
21.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
22.

Expanding Porencephalic Cysts: Prenatal Imaging and Differential Diagnosis.

Abergel A, Lacalm A, Massoud M, Massardier J, des Portes V, Guibaud L.

Fetal Diagn Ther. 2017;41(3):226-233. doi: 10.1159/000447740. Epub 2016 Jul 14.

PMID:
27409647
23.

Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study.

Lagarde S, Villeneuve N, Trébuchon A, Kaphan E, Lepine A, McGonigal A, Roubertie A, Barthez MA, Trommsdorff V, Lefranc J, Wehbi S, des Portes V, Laguitton V, Quartier P, Scavarda D, Giusiano B, Milh M, Bulteau C, Bartolomei F.

Epilepsia. 2016 Jun;57(6):956-66. doi: 10.1111/epi.13387. Epub 2016 Apr 22.

24.

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients.

Curie A, Brun A, Cheylus A, Reboul A, Nazir T, Bussy G, Delange K, Paulignan Y, Mercier S, David A, Marignier S, Merle L, de Fréminville B, Prieur F, Till M, Mortemousque I, Toutain A, Bieth E, Touraine R, Sanlaville D, Chelly J, Kong J, Ott D, Kassai B, Hadjikhani N, Gollub RL, des Portes V.

PLoS One. 2016 Feb 26;11(2):e0149717. doi: 10.1371/journal.pone.0149717. eCollection 2016.

25.

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F.

Sci Transl Med. 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109.

PMID:
26764156
26.

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

Louvrier C, Egea G, Labalme A, Des Portes V, Gazzo S, Callet-Bauchu E, Till M, Sanlaville D, Edery P, Schluth-Bolard C.

Cytogenet Genome Res. 2015;147(2-3):111-7. doi: 10.1159/000442265. Epub 2015 Dec 16.

PMID:
26669311
27.

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.

Alfaiz AA, Müller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A.

Eur J Hum Genet. 2016 Jul;24(7):1001-8. doi: 10.1038/ejhg.2015.227. Epub 2015 Oct 21.

28.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
29.

Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France.

Chevreul K, Berg Brigham K, Brunn M, des Portes V; BURQOL-RD Research Network.

J Intellect Disabil Res. 2015 Dec;59(12):1108-20. doi: 10.1111/jir.12215. Epub 2015 Sep 15.

PMID:
26369667
30.

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.

Poisson A, Nicolas A, Cochat P, Sanlaville D, Rigard C, de Leersnyder H, Franco P, Des Portes V, Edery P, Demily C.

Orphanet J Rare Dis. 2015 Sep 4;10:111. doi: 10.1186/s13023-015-0330-x.

31.

Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.

Curie A, Yang K, Kirsch I, Gollub RL, des Portes V, Kaptchuk TJ, Jensen KB.

PLoS One. 2015 Jul 30;10(7):e0133316. doi: 10.1371/journal.pone.0133316. eCollection 2015.

32.

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Hully M, Vuillaumier-Barrot S, Le Bizec C, Boddaert N, Kaminska A, Lascelles K, de Lonlay P, Cances C, des Portes V, Roubertie A, Doummar D, LeBihannic A, Degos B, de Saint Martin A, Flori E, Pedespan JM, Goldenberg A, Vanhulle C, Bekri S, Roubergue A, Heron B, Cournelle MA, Kuster A, Chenouard A, Loiseau MN, Valayannopoulos V, Chemaly N, Gitiaux C, Seta N, Bahi-Buisson N.

Eur J Med Genet. 2015 Sep;58(9):443-54. doi: 10.1016/j.ejmg.2015.06.007. Epub 2015 Jul 17.

PMID:
26193382
33.

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
34.

PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1.

Yoh SM, Schneider M, Seifried J, Soonthornvacharin S, Akleh RE, Olivieri KC, De Jesus PD, Ruan C, de Castro E, Ruiz PA, Germanaud D, des Portes V, García-Sastre A, König R, Chanda SK.

Cell. 2015 Jun 4;161(6):1293-1305. doi: 10.1016/j.cell.2015.04.050.

35.

[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].

Poisson A, Nicolas A, Sanlaville D, Cochat P, De Leersnyder H, Rigard C, Franco P, des Portes V, Edery P, Demily C.

Arch Pediatr. 2015 Jun;22(6):638-45. doi: 10.1016/j.arcped.2015.03.015. Epub 2015 Apr 28. French.

PMID:
25934608
36.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A.

J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16.

PMID:
25595153
37.

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G.

Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11.

PMID:
25497044
38.

[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].

Drouet A, Le Moigne F, Salamé D, Quesnel L, Motolese C, des Portes V, Guilloton L, Pinson S.

Arch Pediatr. 2014 Nov;21(11):1233-40. doi: 10.1016/j.arcped.2014.08.031. Epub 2014 Oct 22. French.

PMID:
25439059
39.

The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.

Lion-François L, Gueyffier F, Mercier C, Gérard D, Herbillon V, Kemlin I, Rodriguez D, Ginhoux T, Peyric E, Coutinho V, Bréant V, des Portes V, Pinson S, Combemale P, Kassaï B; Réseau NF1 Rhône Alpes Auvergne-France.

Orphanet J Rare Dis. 2014 Sep 10;9:142. doi: 10.1186/s13023-014-0142-4.

40.

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification.

Germanaud D, Lefèvre J, Fischer C, Bintner M, Curie A, des Portes V, Eliez S, Elmaleh-Bergès M, Lamblin D, Passemard S, Operto G, Schaer M, Verloes A, Toro R, Mangin JF, Hertz-Pannier L.

Neuroimage. 2014 Nov 15;102 Pt 2:317-31. doi: 10.1016/j.neuroimage.2014.07.057. Epub 2014 Aug 6.

PMID:
25107856
41.

Translating molecular advances in fragile X syndrome into therapy: a review.

Hagerman RJ, Des-Portes V, Gasparini F, Jacquemont S, Gomez-Mancilla B.

J Clin Psychiatry. 2014 Apr;75(4):e294-307. doi: 10.4088/JCP.13r08714. Review.

PMID:
24813413
42.

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Boutry-Kryza N, Ville D, Labalme A, Calender A, Dupont JM, Touraine R, Edery P, des Portes V, Sanlaville D, Lesca G.

Am J Med Genet A. 2014 Aug;164A(8):2025-8. doi: 10.1002/ajmg.a.36547. Epub 2014 Apr 8.

PMID:
24715584
43.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Curie A, Nazir T, Brun A, Paulignan Y, Reboul A, Delange K, Cheylus A, Bertrand S, Rochefort F, Bussy G, Marignier S, Lacombe D, Chiron C, Cossée M, Leheup B, Philippe C, Laugel V, De Saint Martin A, Sacco S, Poirier K, Bienvenu T, Souville I, Gilbert-Dussardier B, Bieth E, Kauffmann D, Briot P, de Fréminville B, Prieur F, Till M, Rooryck-Thambo C, Mortemousque I, Bobillier-Chaumont I, Toutain A, Touraine R, Sanlaville D, Chelly J, Freeman S, Kong J, Hadjikhani N, Gollub RL, Roy A, des Portes V.

Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.

44.

Pineal region tumors: Clinical symptoms and syndromes.

Rousselle C, des Portes V, Berlier P, Mottolese C.

Neurochirurgie. 2015 Apr-Jun;61(2-3):106-12. doi: 10.1016/j.neuchi.2013.08.009. Epub 2014 Jan 17.

PMID:
24439798
45.

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Poulat AL, Lesca G, Sanlaville D, Blanchard G, Lion-François L, Rougeot C, des Portes V, Ville D.

Eur J Paediatr Neurol. 2014 Mar;18(2):176-82. doi: 10.1016/j.ejpn.2013.11.005. Epub 2013 Nov 18.

PMID:
24314761
46.

The challenges of clinical trials in fragile X syndrome.

Jacquemont S, Berry-Kravis E, Hagerman R, von Raison F, Gasparini F, Apostol G, Ufer M, Des Portes V, Gomez-Mancilla B.

Psychopharmacology (Berl). 2014 Mar;231(6):1237-50. doi: 10.1007/s00213-013-3289-0. Epub 2013 Oct 31. Review.

47.

Neural correlates of non-verbal social interactions: a dual-EEG study.

Ménoret M, Varnet L, Fargier R, Cheylus A, Curie A, des Portes V, Nazir TA, Paulignan Y.

Neuropsychologia. 2014 Mar;55:85-97. doi: 10.1016/j.neuropsychologia.2013.10.001. Epub 2013 Oct 21.

PMID:
24157538
48.

Motor resonance facilitates movement execution: an ERP and kinematic study.

Ménoret M, Curie A, des Portes V, Nazir TA, Paulignan Y.

Front Hum Neurosci. 2013 Oct 15;7:646. doi: 10.3389/fnhum.2013.00646. eCollection 2013.

49.

Stroke by carotid artery complete occlusion in Kawasaki disease: case report and review of literature.

Sabatier I, Chabrier S, Brun A, Hees L, Cheylus A, Gollub R, Hadjikhani N, Kong J, des Portes V, Floret D, Curie A.

Pediatr Neurol. 2013 Dec;49(6):469-73. doi: 10.1016/j.pediatrneurol.2013.08.011. Epub 2013 Oct 3. Review.

PMID:
24095647
50.

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

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