Publications by authors named "Brigitte Chabrol"

100Publications

[Disabled child, care and ethical aspects].

Authors:
Brigitte Chabrol

Rev Prat 2020 Feb;70(2):222-226

Service de neurologie pédiatrique, Hôpital d'enfants, CHU La Timone, Marseille, France.

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February 2020

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Mol Genet Metab Rep 2020 Jun 1;23:100583. Epub 2020 May 1.

Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Service de Neurologie, CHU Raymond Poincaré, AP-HP, 104 bd Raymond Poincaré, 92380 Garches, France.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200937PMC
June 2020

Bromazepam intoxication in an infant: Contribution of hair and nail analysis.

Drug Test Anal 2020 Mar 10;12(3):397-401. Epub 2020 Feb 10.

Service de Médecine Légale, Aix Marseille University, APHM, Hôpital La Timone, Marseille, France.

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http://dx.doi.org/10.1002/dta.2774DOI Listing
March 2020

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Neurology 2019 02 18;92(8):e852-e865. Epub 2019 Jan 18.

From CHRU de Tours (E.L.), Université François Rabelais de Tours, INSERM U1253, Tours; Neuromuscular Reference Center (C.D., M.D.A., R.G.), AP-HP, Hôpital Pitié-Salpêtrière, Paris; Inserm UMRS872 (M.D.A.), team22, Centre de recherche des Cordeliers, Paris; Service de neurologie pédiatrique (F.A.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de pédiatrie médicale (N.B.), pôle Femme Enfant, CHU, Caen; Consultation myologie (C.B., I.D.), Cliniques des maladies du développement, Hôpital Necker-Enfants Malades, Paris; Centre hospitalier universitaire de Fort de France (R.B.), unité de neuromyologie, Fort de France; Service de pédiatrie-Neurologie Pôle enfants (C.C.), Hôpital des enfants, CHU Purpan, Toulouse; Service de neurologie pédiatrique (B.C.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de Neuropédiatrie et Centre de Référence Maladies Neuromusculaires (J.-M.C.), Hôpital Roger-Salengro, Lille; Pôle mère-enfant (J.D.), neuropédiatrie et neurochirgurgie de l'enfant, CHU d'Angers; Service de pédiatrie médicale (C.E.), Hôpital Pellegrin, Bordeaux; Pôle de pédiatrie médico-chirurgicale et génétique Clinique (M.F.), CHU de Rennes-Hôpital Sud, Rennes; Centre de Référence Déficiences Intellectuelles (D. Héron), Département de Génétique et INSERM U975, Groupe hospitalier Pitié-Salpétrière, Paris; Service de neuropédiatrie et pathologie du développement (A.I., M.M.), Hôpital Trousseau, Paris; Service de neurophysiologie enfants et adultes (A.J.-P.), Hôpital F. Mitterrand, Dijon; Centre hospitalier Bretagne Atlantique (H.J.), Vannes; Hôpital de la mère et de l'enfant (C.L.-R.), Dominique Larrey, Limoges; Service de pédiatrie 1 (V.L.), Centre de référence pour les maladies neuromusculaires CENRNEST, Hôpital de Hautepierre-Hôpitaux Universitaires de Strasbourg; CHU Nantes (A.M., Y.P., J.P.-B.), Centre de Référence Maladies Neuromusculaires Nantes-Angers, Hôtel-Dieu, Nantes; Service d'Epileptologie Clinique (V.M.), des Troubles du Sommeil et de Neurologie Fonctionnelle de l'Enfant, Hôpital Femme Mère Enfant, Lyon; Département de pédiatrie et département de génétique médicale (S.P.), Hôpital Morvan, Brest; Département de pédiatrie (S.Q.-R.), Hôpital Raymond Poincaré, Garches; Service d'explorations fonctionnelles pédiatriques (S.R.-M.), Hôpital de Brabois, Vandœuvre-Lès-Nancy; Service de de pédiatrie et de neuropédiatrie (C.R.), Hôpital l'Archet 2, Pôle Femme Mère Enfant, Nice; Département de neuropédiatrie (F.R., U.W.-L.), Hôpital Gui de Chauliac, Montpellier; Service de pédiatrie A-Unité de neurologie pédiatrique (P.S.), American Memorial Hospital, Reims; Centre de référence des neuropathies rares et pathologies neuromusculaires (C.S.), Centre hospitalo-universitaire de Clermont-Ferrand, Clermont-Ferrand; Pôle de Psychiatrie (H.T.), Neurologie et Rééducation Neurologique, CHU Grenoble Alpes, Grenoble; Service de neurologie pédiatrique (C.V.), Pavillon Femme, mère et enfant, Hôpital Charles Nicolle, Rouen; Inserm UMR U955 E10 et Université Paris-Est Créteil (R.G.); Direction de la Recherche et de l'Innovation (D. Hamroun), CHRU de Montpellier; Sorbonne Université (G.B.), INSERM, UMRS974, Neuromuscular Reference Center, AP-HP, Hôpital Pitié-Salpêtrière, Paris; and FILNEMUS (E.L., C.D., M.D.A., F.A., N.B., C.B., R.B., C.C., B.C., J.-M.C., I.D., J.D., C.E., M.F., D. Héron, A.I., A.J.-P., H.J., C.L.-R., V.L., A.M., V.M., M.M., Y.P., J.P.-B., S.P., S.Q.-R., S.R.-M., C.R., F.R., P.S., C.S., H.T., C.V., U.W.-L., R.G., D. Hamroun, G.B.), French Neuromuscular Reference Centers, France.

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http://dx.doi.org/10.1212/WNL.0000000000006948DOI Listing
February 2019

Feedforward motor control in developmental dyslexia and developmental coordination disorder: Does comorbidity matter?

Res Dev Disabil 2018 May 14;76:25-34. Epub 2018 Mar 14.

Aix-Marseille Université, CNRS, LNC UMR 7291, Marseille, France; Aix-Marseille Université, CNRS, FR 3512, Marseille, France.

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http://dx.doi.org/10.1016/j.ridd.2018.03.001DOI Listing
May 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Muscle Nerve 2018 04 11;57(4):603-609. Epub 2017 Oct 11.

APHM Service de Neuropédiatrie, Hôpital La Timone-Enfants, 264, Rue St Pierre Marseille, 13385, cedex 5, France.

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http://dx.doi.org/10.1002/mus.25965DOI Listing
April 2018

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Eur J Paediatr Neurol 2017 Sep 29;21(5):783-786. Epub 2017 Apr 29.

APHM, Department of Pediatric Neurology, Hopital de la Timone, Marseille, France; AIx Marseille univ, INSERM, GMGF, UMR_S 910, Faculté de médecine, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.001DOI Listing
September 2017

A new mutation in the mitochondrial tRNA gene associated with early-onset neuromuscular phenotype and ragged-red fibers.

Neuromuscul Disord 2016 Dec 16;26(12):885-889. Epub 2016 Sep 16.

Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, France; Nice Sophia-Antipolis University, IRCAN, CNRS, INSERM, UMR 7284 & U1081, 06107 Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.09.012DOI Listing
December 2016

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study.

Orphanet J Rare Dis 2016 Sep 23;11(1):127. Epub 2016 Sep 23.

Reference Centre for Inherited Metabolic Disorders (MaMEA), Hôpital Necker-Enfants Malades, Institut Imagine, Université Paris Descartes, 149 rue de Sèvres, 75743, Paris, Cedex 15, France.

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http://dx.doi.org/10.1186/s13023-016-0513-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034629PMC
September 2016

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Clin Dysmorphol 2017 Jan;26(1):47-49

Departments of aClinical Genetics bPediatric Neurology cRadiology dCytogenetics, APHM, CHU Timone-Enfants, Marseille, France.

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http://dx.doi.org/10.1097/MCD.0000000000000139DOI Listing
January 2017

Neuroimaging differential diagnoses to abusive head trauma.

Pediatr Radiol 2016 May 30;46(5):603-14. Epub 2015 Dec 30.

Department of Pediatric Neurology, AP-HM Timone, Marseille, France.

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http://dx.doi.org/10.1007/s00247-015-3509-3DOI Listing
May 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Brain Dev 2016 May 10;38(5):498-506. Epub 2015 Dec 10.

Department of Neuropaediatrics, Timone Hospital, Marseille Teaching Hospital, France.

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http://dx.doi.org/10.1016/j.braindev.2015.11.006DOI Listing
May 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

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http://link.springer.com/content/pdf/10.1186%2Fs13023-015-03
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http://www.ojrd.com/content/10/1/135
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.

Ann Neurol 2015 Nov 31;78(5):831. Epub 2015 Aug 31.

Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France.

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http://dx.doi.org/10.1002/ana.24464DOI Listing
November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Orphanet J Rare Dis 2015 Apr 12;10:43. Epub 2015 Apr 12.

Centre de Référence Maladies Métaboliques de l'enfant et de l'adulte, Hôpital Universitaire Necker-Enfants Malades et Institut IMAGINE, Paris, France.

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http://www.ojrd.com/content/10/1/43
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http://dx.doi.org/10.1186/s13023-015-0259-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407793PMC
April 2015

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Am J Hum Genet 2014 Dec 13;95(6):637-48. Epub 2014 Nov 13.

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1163, Laboratory of Inherited Kidney Diseases, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Imagine Institute, 75015 Paris, France; Department of Genetics, Necker Hospital, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259970PMC
December 2014

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome.

Epilepsy Behav 2014 Feb 8;31:143-8. Epub 2014 Jan 8.

APHM, Service de neurologie pédiatrique, Hôpital de la Timone, 13005 Marseille, France; INSERM, UMR 910, Aix-Marseille Université, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.yebeh.2013.11.021DOI Listing
February 2014

Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Mol Genet Metab 2013 Nov 8;110(3):268-74. Epub 2013 Sep 8.

Department of Metabolic Biochemistry, Hôpital Necker-Enfants Malades, AP-HP, 149 rue de Sèvres, 75015 Paris, France; School of Medicine, Paris Descartes University Sorbonne Paris Cité, 15 rue de l'Ecole de Médecine, 75006 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830450PMC
November 2013

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study.

Health Qual Life Outcomes 2013 Sep 19;11:158. Epub 2013 Sep 19.

EA3279, Self-perceived Health Assessment Research Unit, School of Medicine, Université de la Méditerranée, 27 bd Jean Moulin, Marseille 13385, France.

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http://dx.doi.org/10.1186/1477-7525-11-158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848736PMC
September 2013

Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.

Pediatrics 2013 Sep 19;132(3):e784-7. Epub 2013 Aug 19.

Service de Neuropédiatrie, Hôpital Timone Enfants, Marseille, France.

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http://dx.doi.org/10.1542/peds.2012-3065DOI Listing
September 2013

[Pediatric medicine in 2013].

Authors:
Brigitte Chabrol

Bull Acad Natl Med 2013 Jun;197(6):1115-22

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June 2013

Neuronal ceroid lipofuscinoses.

Handb Clin Neurol 2013 ;113:1701-6

Reference Center for Hereditary Metabolic Illnesses, Hôpital Timone Enfants, Marseilles, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00038-1DOI Listing
March 2014

Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.

Gene 2013 Jan 2;512(2):194-7. Epub 2012 Nov 2.

Unité de génétique clinique, APHM, CHU Timone-Enfants, France.

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http://dx.doi.org/10.1016/j.gene.2012.09.134DOI Listing
January 2013

Dynamic equinus with hindfoot valgus in children with hemiplegia.

Gait Posture 2012 May 16;36(1):108-12. Epub 2012 Mar 16.

Laboratoire de la Marche, service de Chirurgie Orthopédique Pédiatrique, CHU Timone Enfants, Aix-Marseille Univ, 13385 Marseille, France.

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http://dx.doi.org/10.1016/j.gaitpost.2012.01.015DOI Listing
May 2012

Resistant Kawasaki disease treated with anti-CD20.

J Pediatr 2012 May 17;160(5):875-6. Epub 2012 Feb 17.

Unité de Médecine Infantile, CHU Timone Enfants, Marseille, France.

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http://linkinghub.elsevier.com/retrieve/pii/S002234761200037
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http://dx.doi.org/10.1016/j.jpeds.2012.01.018DOI Listing
May 2012

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Mol Genet Metab 2012 Apr 20;105(4):684-6. Epub 2012 Jan 20.

INSERM, U910, Aix-Marseille Université, Marseille, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.011DOI Listing
April 2012

Neurologic features and genotype-phenotype correlation in Wolfram syndrome.

Ann Neurol 2011 Mar 28;69(3):501-8. Epub 2010 Dec 28.

Department of Medical Genetics, Archet 2 Hospital, CHU of Nice, France.

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http://dx.doi.org/10.1002/ana.22160DOI Listing
March 2011

New onset refractory convulsive status epilepticus associated with serum neuropil auto-antibodies in a school aged child.

Brain Dev 2011 Sep 13;33(8):687-91. Epub 2010 Nov 13.

Department of Paediatric Neurology, AP-HM, Hôpital Timone, Université de la Méditerranée, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.braindev.2010.10.020DOI Listing
September 2011

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Neurogenetics 2011 Feb 19;12(1):73-8. Epub 2010 Aug 19.

Unité de Génétique Médicale et laboratoire associé INSERM à l'unité UMR_S 910, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1007/s10048-010-0256-3DOI Listing
February 2011

Anticipatory postural adjustments in a bimanual load-lifting task in children with developmental coordination disorder.

Dev Med Child Neurol 2010 Sep 28;52(9):850-5. Epub 2010 Jan 28.

Centre for Research in the Psychology of Cognition, Language and Emotion, Aix-Marseille University, France.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03611.xDOI Listing
September 2010

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.

Muscle Nerve 2010 Feb;41(2):269-71

Laboratoire d'Anatomie Pathologique et Neuropathologie, Hôpital de la Timone Adultes, 264 rue Saint-Pierre, 13385 Marseille Cedex 05, France.

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http://dx.doi.org/10.1002/mus.21499DOI Listing
February 2010

[Epilepsy in the child].

Rev Prat 2009 May;59(5):689-93

Service de neurologie pédiatrique, Hôpital d'enfants, CHU La Timone, 13385 Marseille Cedex, France.

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May 2009

Aortic dilatation in Cockayne syndrome.

Am J Med Genet A 2007 Nov;143A(21):2604-6

Paediatric Cardiology, La Timone Children's Hospital, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.31986DOI Listing
November 2007

Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.

Pediatr Cardiol 2008 Jan 10;29(1):163-5. Epub 2007 Oct 10.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital La Timone Enfants, Marseille, France.

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http://dx.doi.org/10.1007/s00246-007-9051-9DOI Listing
January 2008

[Fabry disease in childhood].

Presse Med 2007 Mar;36 Spec No 1:1S32-5

Centre de Référence des Maladies Métaboliques de l'Enfant, Hôpital d'Enfants, CHU de la Timone, Marseille (13), France.

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March 2007

Anticipatory postural adjustments in a bimanual load-lifting task in children with Duchenne muscular dystrophy.

Neurosci Lett 2006 Aug 5;403(3):271-5. Epub 2006 Jun 5.

Groupe Développement et Pathologie de l'Action, CNRS UMR 6196, 31 Chemin Joseph Aiguier, 13402 Marseille Cedex 20, France.

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http://dx.doi.org/10.1016/j.neulet.2006.04.054DOI Listing
August 2006

Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia.

Pediatr Res 2002 Aug;52(2):292-300

Center for Magnetic Resonance in Biology and Medicine CRMBM-UMR-CNRS 6612, Faculty of Medicine, Marseille, France.

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http://dx.doi.org/10.1203/00006450-200208000-00024DOI Listing
August 2002