Publications by authors named "Linda De Meirleir"

84Publications

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.

J Inherit Metab Dis 2019 09 24;42(5):898-908. Epub 2019 Jul 24.

Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/jimd.12149DOI Listing
September 2019

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Eur J Med Genet 2018 Dec 5;61(12):733-737. Epub 2018 Jun 5.

Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.001DOI Listing
December 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2017-104891DOI Listing
January 2018

Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder.

Dev Med Child Neurol 2017 12 25;59(12):1215-1216. Epub 2017 Sep 25.

Department of Paediatric Neurology, Universitair Ziekenhuis Brussel (UZ Brussel), Jette, Belgium.

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http://dx.doi.org/10.1111/dmcn.13583DOI Listing
December 2017

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.

Acta Clin Belg 2016 Dec 24;71(6):435-437. Epub 2016 May 24.

a Division of Paediatric Endocrinology , University Hospital Brussels , Brussels , Belgium.

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http://dx.doi.org/10.1080/17843286.2016.1142043DOI Listing
December 2016

Effect of supporting 3D-garment on gait postural stability in children with bilateral spastic cerebral palsy.

NeuroRehabilitation 2016 Jun;39(2):175-81

Rehabilitation Hospital Inkendaal, Vlezenbeek, Belgium.

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http://dx.doi.org/10.3233/NRE-161349DOI Listing
June 2016

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Am J Med Genet A 2016 Jun 23;170(6):1642-6. Epub 2016 Mar 23.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37628DOI Listing
June 2016

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

Phenotypic plasticity and the perception-action-cognition-environment paradigm in neurodevelopmental genetic disorders.

Dev Med Child Neurol 2015 Apr;57 Suppl 2:52-4

Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium; Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles (ULB), Brussels, Belgium.

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http://dx.doi.org/10.1111/dmcn.12694DOI Listing
April 2015

Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage.

Matern Health Neonatol Perinatol 2015 18;1. Epub 2015 Mar 18.

AZ Sint Jan Brugge-Oostende AV, Neonatal Intensive Care Unit, Bruges, Belgium.

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http://dx.doi.org/10.1186/s40748-015-0010-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823675PMC
April 2016

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

PLoS One 2014 10;9(11):e112950. Epub 2014 Nov 10.

Research Group Reproduction and Genetics (REGE), Vrije Universiteit Brussel (VUB), Brussels, Belgium; Center for Medical Genetics, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112950PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226615PMC
December 2015

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

Am J Med Genet A 2015 Jan 22;167A(1):211-4. Epub 2014 Oct 22.

Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.

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http://doi.wiley.com/10.1002/ajmg.a.36803
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http://dx.doi.org/10.1002/ajmg.a.36803DOI Listing
January 2015

Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease.

Child Adolesc Psychiatry Ment Health 2014 11;8:20. Epub 2014 Jul 11.

Child and adolescent psychiatry, PAika - UZ Brussel, Laarbeeklaan 101, Brussels 1090, Belgium.

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http://dx.doi.org/10.1186/1753-2000-8-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112998PMC
July 2014

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Neurology 2014 Jun 7;82(22):1999-2002. Epub 2014 May 7.

From INSERM, U 975, and CNRS 7225-CRICM (A.M., C.D., O.T., D.B., I.L., M.V., A.B., E.R.), Département de Neurologie (A.M., M.V., E.R.), Fédération de Génétique, Département de Génétique et de Cytogénétique (C.D., A.B.), Banque d'ADN et de cellules (I.L.), Department of Biostatistics (J.-L.G.), and Centre d'Investigation Clinique Pitié Neurosciences 1422 (E.R.), Hôpital Pitié-Salpêtrière, AP-HP, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., C.D., M.V., A.B., E.R.), UMR_S 975, Paris; Laboratoire de Génétique (F.R.), Groupe hospitalier Lariboisière-Fernand Widal, AP-HP, Paris; INSERM UMR_S740 (F.R.), Université Paris 7 Denis Diderot, Paris, France; Unit of Neurology (M.C., A.B.), Florence Health Authority, Italy; Génétique Médicale (P.B.), CHU Paris Nord, Hôpital Jean Verdier, Bondy, France; Department of Human Genetics (J.W.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Neurogenetics (A.W.), University of Lübeck, Germany; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP, Paris, France; Unit of Neurology (M.R.), Villa Sofia-Cervello Hospital, Palermo; Department of Neuroscience (S.R.), Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena, Italy; Neurologie et Pathologie du Mouvement (L.D.), Neurologie A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046, Lille, France; Pediatric Neurology and Metabolism (L.D.M.), Universitair Ziekenhuis Brussel, Belgium; James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders (A.J.E.), University of Cincinnati Academic Health Center, Cincinnati, OH; IRCCS Fondazione Stella Maris (S.F.), Calambrone, Pisa, Italy; Department of Neurology (S.K.), University Hospital Würzburg, Germany; Service de Génétique Clinique (C.Q.), Hôpital Sud, Rennes, France; Institute for Human Genetics (S.R.-S.), Uniklinik RWTH Aachen, Germany; Service de Génétique (G.P.), CHU Clémenceau, Caen, F

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http://dx.doi.org/10.1212/WNL.0000000000000477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259PMC
June 2014

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Eur J Hum Genet 2015 Jan 26;23(1):41-8. Epub 2014 Mar 26.

1] Research Group Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Brussels, Belgium [2] Department of Pediatric Neurology, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1038/ejhg.2014.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266735PMC
January 2015

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

Eur J Paediatr Neurol 2014 May 6;18(3):420-6. Epub 2013 Dec 6.

Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium; Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.010DOI Listing
May 2014

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

J Inherit Metab Dis 2014 Jan 18;37(1):53-62. Epub 2013 Jun 18.

Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, CIBERER, Edifici Helios III, planta baixa, C/Mejía Lequerica s/n, 08028, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-013-9620-4DOI Listing
January 2014

Disorders of pyruvate metabolism.

Handb Clin Neurol 2013 ;113:1667-73

Pediatric Neurology and Metabolism, Universitair Ziekenhuis Brussel, Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00034-4DOI Listing
March 2014

Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.

JIMD Rep 2013 12;10:107-11. Epub 2013 Feb 12.

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India,

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http://dx.doi.org/10.1007/8904_2012_211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755565PMC
May 2013

Influence of botulinum toxin therapy on postural control and lower limb intersegmental coordination in children with spastic cerebral palsy.

Toxins (Basel) 2013 Jan 11;5(1):93-105. Epub 2013 Jan 11.

Centre d'Analyse du Mouvement, Hôpital Brugmann, Université Libre de Bruxelles, Brussels B-1020, Belgium.

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http://www.mdpi.com/2072-6651/5/1/93
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http://dx.doi.org/10.3390/toxins5010093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564071PMC
January 2013

Effect of ankle-foot orthoses on trunk sway and lower limb intersegmental coordination in children with bilateral cerebral palsy.

J Pediatr Rehabil Med 2012 ;5(3):171-9

Centre d'Analyse du Mouvement, Hôpital Brugmann, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.3233/PRM-2012-0209DOI Listing
March 2013

DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.

J Pediatr Gastroenterol Nutr 2013 Nov;57(5):e28-9

*Gazi University Faculty of Medicine, Pediatric Metabolic Unit, Beşevler, Ankara, Turkey †Vrije Universiteit Brussel, Center for Medical Genetics ‡Vrije Universiteit Brussel, Pediatric Neurology, Brussels, Belgium.

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http://dx.doi.org/10.1097/MPG.0b013e31826bd4edDOI Listing
November 2013

Revised recommendations for the management of Gaucher disease in children.

Eur J Pediatr 2013 Apr 8;172(4):447-58. Epub 2012 Jul 8.

Children's Hospital of Philadelphia, University of Pennsylvania, 9th Floor, Colket Translational Research Building, Civic Center Blvd, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00431-012-1771-zDOI Listing
April 2013

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

Pediatr Res 2012 Sep 22;72(3):232-40. Epub 2012 Jun 22.

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/pr.2012.84DOI Listing
September 2012

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Turk J Pediatr 2011 Jan-Feb;53(1):79-82

Unit of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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June 2011

Complex III staining in blue native polyacrylamide gels.

J Inherit Metab Dis 2011 Jun 12;34(3):741-7. Epub 2011 Apr 12.

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9315
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http://link.springer.com/10.1007/s10545-011-9315-7
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http://dx.doi.org/10.1007/s10545-011-9315-7DOI Listing
June 2011

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Ann Neurol 2010 Aug;68(2):259-63

Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1002/ana.22035DOI Listing
August 2010

Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study.

Seizure 2010 Apr 10;19(3):159-64. Epub 2010 Feb 10.

University Hospitals KULeuven, Department of Pediatric Neurology, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.seizure.2010.01.008DOI Listing
April 2010

Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination.

J Pediatr Rehabil Med 2010 ;3(3):163-70

Corresponding author: Prof. Bernard Dan, Dept. of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), 15 Avenue J.J. Crocq, 1020 Brussels, Belgium. Fax: +32 2 4772860; E-mail: Ziekenhuis Inkendaal, Vlezenbeek, Belgium.

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http://dx.doi.org/10.3233/PRM-2010-0125DOI Listing
October 2012

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Electrophoresis 2009 Oct;30(20):3565-72

Department of Paediatrics, Division of Paediatric Neurology and Metabolism, University Hospital Ghent, Ghent, Belgium.

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http://doi.wiley.com/10.1002/elps.200900213
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http://dx.doi.org/10.1002/elps.200900213DOI Listing
October 2009

Unusual findings in Leigh syndrome caused by T8993C mutation.

Eur J Paediatr Neurol 2009 Nov 30;13(6):550-2. Epub 2008 Nov 30.

Department of Pediatrics, Division of Child Neurology, Dokuz Eylül University School of Medicine, 35340 Izmir, Turkey.

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http://dx.doi.org/10.1016/j.ejpn.2008.10.009DOI Listing
November 2009

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.

Acta Neurol Belg 2007 Sep;107(3):78-83

Center for Medical Genetics, Vrije Universiteit Brussel.

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September 2007

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

Arch Neurol 2007 Sep;64(9):1339-43

Center for Medical Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1001/archneur.64.9.1339DOI Listing
September 2007

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.

Anal Chim Acta 2006 Jul 5;571(2):191-9. Epub 2006 May 5.

Department of Clinical Chemistry, Academic Hospital, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.aca.2006.04.079DOI Listing
July 2006

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Ann Neurol 2007 Jun;61(6):579-86

Department of Pediatric Neurology, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.21121DOI Listing
June 2007

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Eur J Hum Genet 2007 Jun 14;15(6):638-45. Epub 2007 Mar 14.

Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201813DOI Listing
June 2007

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Eur J Paediatr Neurol 2007 Jan 11;11(1):17-20. Epub 2006 Dec 11.

Center for Medical Genetics, Neurology AZ-VUB, Dutch-speaking Free University of Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2006.10.004DOI Listing
January 2007

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

Arch Neurol 2006 Aug;63(8):1194-8

Center for Medical Genetics, Dutch-Speaking Free University of Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1001/archneur.63.8.1194DOI Listing
August 2006

Acute pancreatitis after growth hormone treatment: disease or treatment linked?

Eur J Pediatr 2006 Sep 12;165(9):652-3. Epub 2006 May 12.

DECCP, Clinique Pédiatrique de Luxembourg, 4, rue Barblé, 1210 Luxembourg, Grand Duchy of Luxembourg.

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http://dx.doi.org/10.1007/s00431-006-0126-zDOI Listing
September 2006

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.

Am J Med Genet A 2006 Apr;140(7):752-6

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31117DOI Listing
April 2006

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Neuromuscul Disord 2006 Jan 20;16(1):19-25. Epub 2005 Dec 20.

Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2005.10.007DOI Listing
January 2006

Steroids in intractable childhood epilepsy: clinical experience and review of the literature.

Seizure 2005 Sep;14(6):412-21

Department of Pediatrics, Division of Pediatric Neurology, Ghent University Hospital, De Pintelaan 185, 9000 Gent, Belgium.

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http://dx.doi.org/10.1016/j.seizure.2005.07.002DOI Listing
September 2005

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Eur J Pediatr 2005 Feb 19;164(2):99-103. Epub 2004 Nov 19.

Department of Paediatrics, Sahlgrenska University Hospital/Ostra, 41685 Göteborg, Sweden.

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http://dx.doi.org/10.1007/s00431-004-1570-2DOI Listing
February 2005

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.

Eur J Paediatr Neurol 2004 ;8(6):299-306

Center for Medical genetics, Dutch speaking Free University of Brussels, AZ-VUB, Laarbeeklaan 101, B-1090 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2004.07.006DOI Listing
January 2005

Early onset Huntington disease: a neuronal degeneration syndrome.

Eur J Pediatr 2004 Dec;163(12):717-21

Department of Medical Genetics, AZ-VUB, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://dx.doi.org/10.1007/s00431-004-1537-3DOI Listing
December 2004

Defects of pyruvate metabolism and the Krebs cycle.

J Child Neurol 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4

Department of Pediatric Neurology, Free University of Brussels, Flemish speaking, Brussels, Belgium.

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December 2002

Study of pediatric brain development using magnetic resonance imaging of anisotropic diffusion.

Magn Reson Imaging 2002 May;20(4):327-36

Biomedical MR Unit, AZ-VUB, Laarbeeklaan 101, B-1090 Brussels, Belgium.

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http://dx.doi.org/10.1016/s0730-725x(02)00501-5DOI Listing
May 2002