References
Jan 1, 1991·Annals of the New York Academy of Sciences·A Pikus
Jun 5, 1991·Biochimica Et Biophysica Acta·C E ArgoffP G Pentchev
Jun 5, 1991·Biochimica Et Biophysica Acta·M T VanierP Louisot
May 1, 1990·Pediatric Neurology·R N BoustanyJ Alroy
Aug 1, 1967·The Journal of Pediatrics·W K Frankenburg, J B Dodds
Oct 9, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·M T VanierM Fichet
Jan 7, 1983·Biochimica Et Biophysica Acta·M T Vanier
Sep 1, 1982·Annals of Neurology·R S KandtH W Moser
Jan 1, 1980·Child: Care, Health and Development·J A SmithO P Gray
Sep 1, 1995·Neurology·L M ShulmanW J Weiner
Aug 1, 1993·The Journal of Pediatrics·D A KellyB D Lake
May 1, 1994·Pediatric Neurology·M SylvainM I Shevell
Apr 1, 1994·Journal of Medical Genetics·S J SteinbergA H Fensom
May 25, 1994·Biochimica Et Biophysica Acta·C Rodriguez-LafrasseM T Vanier
Jan 1, 1993·Neurology·M C PattersonP G Pentchev
Apr 1, 1993·Journal of Child Neurology·R A OuvrierI C Williams
Jan 1, 1995·Journal of Inherited Metabolic Disease·Y GuoO P van Diggelen
May 1, 1997·Neurology·J L Cummings
Jul 11, 1997·Science·E D CarsteaD A Tagle
Jan 13, 1998·Vision Research·K G RottachR J Leigh
Mar 25, 1998·Journal of Child Neurology·M M Jan, P R Camfield
Jun 23, 1998·American Journal of Human Genetics·W L GreerP E Neumann
Jul 17, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·G TedeschiR Schiffmann
Sep 25, 1998·The Journal of Biological Chemistry·R G BootJ M Aerts
Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Sep 9, 2000·The Journal of Biological Chemistry·J W ReaganG S Shelness
Dec 5, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·E Y UcJ Jankovic
Dec 13, 2000·Neurology·P S MathuranathJ R Hodges
Dec 13, 2000·Neurology·B DuboisB Pillon
Dec 23, 2000·Science·S NaureckieneP Lobel
Apr 24, 2001·Archives of Disease in Childhood·J Imrie, J E Wraith
May 3, 2001·American Journal of Human Genetics·G MillatM T Vanier
Aug 30, 2001·Current Biology : CB·M ZervasS U Walkley
Sep 22, 2001·American Journal of Human Genetics·G MillatM T Vanier
Dec 26, 2001·Chemical Reviews·T D ButtersF M Platt
Jul 19, 2002·Prenatal Diagnosis·Marie T Vanier
Jul 27, 2002·Journal of Pediatric Gastroenterology and Nutrition·Baruch YerushalmiDavid A Wenger
Jan 16, 2003·The Journal of Comparative Neurology·Justyna R SarnaRichard Hawkes
Feb 11, 2003·Journal of Lipid Research·Marc WalterYiannis A Ioannou
Mar 18, 2003·Journal of Neurology, Neurosurgery, and Psychiatry·K A JosephsJ A Van Gerpen
Jun 13, 2003·Assessment·Joseph J Ryan, Summer D Schnakenberg-Ott
Sep 5, 2003·Human Mutation·Walter D ParkKaren Snow
Nov 25, 2003·The Neurologist·Marc C Patterson
Nov 25, 2003·Pediatric Neurology·Dimitrios I ZafeiriouEleni Michelakaki
Nov 26, 2003·Movement Disorders : Official Journal of the Movement Disorder Society·Carla BattistiAntonio Federico
Dec 20, 2003·European Journal of Human Genetics : EJHG·Rui PintoM C Sá Miranda
Feb 24, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Elsdon StoreyAndrew Churchyard
Jul 6, 2004·Ophthalmology·Margaret M McGovernScott E Brodie
Jul 21, 2004·Neurobiology of Disease·Robin H LachmannFrances M Platt
Sep 17, 2004·Clinical Biochemistry·Alessandro WajnerJanice C Coelho
Citations
Apr 30, 2014·Orphanet Journal of Rare Diseases·Olivier BonnotMark Walterfang
Oct 15, 2013·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Katalin SzakszonIstván Balogh
Dec 18, 2013·Drugs·Katherine A Lyseng-Williamson
Feb 4, 2014·The Journal of Clinical Investigation·Danielle te VruchteFrances M Platt
Jun 19, 2013·Human Molecular Genetics·Peter BauerMarc C Patterson
Apr 30, 2014·Orphanet Journal of Rare Diseases·Katarzyna KwiatkowskaAndrzej Sobota
May 9, 2014·BMJ Case Reports·Suresh PandiAnnamma Kurien
Jun 12, 2014·Orphanet Journal of Rare Diseases·Huiwen ZhangXuefan Gu
Sep 4, 2014·Annual Review of Genomics and Human Genetics·Frances M PlattForbes D Porter
Apr 9, 2014·Journal of Inherited Metabolic Disease·Bryan Winchester
May 14, 2014·Journal of Inherited Metabolic Disease·Carla E M Hollak, Frits A Wijburg
Aug 26, 2014·Seminars in Pediatric Neurology·Chang-Yong Tsao
Aug 26, 2014·Seminars in Pediatric Neurology·Marc C Patterson
Jul 20, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Sara BoenziDavid W Johnson
Sep 23, 2014·Orphanet Journal of Rare Diseases·Gizely N AndradeJohn J Foxe
Nov 27, 2014·Orphanet Journal of Rare Diseases·Lucia AbelaMarianne Rohrbach
May 17, 2014·Current Treatment Options in Neurology·Laurence MartineauNicolas Dupré
Sep 23, 2014·Orphanet Journal of Rare Diseases·Helena JahnovaPavel Jesina
Jun 9, 2012·Orphanet Journal of Rare Diseases·Bénédicte HéronMarie T Vanier
Jan 18, 2013·Orphanet Journal of Rare Diseases·Marc C PattersonMercé Pineda
Feb 26, 2013·Orphanet Journal of Rare Diseases·Miriam StampferHeiko Runz
Oct 19, 2013·Orphanet Journal of Rare Diseases·Eugen MengelStefan A Kolb
Jun 25, 2013·Journal of Inherited Metabolic Disease·James E WraithStefan A Kolb
Jun 10, 2014·Molecular and Cellular Neurosciences·Isabelle Buard, Frank W Pfrieger
Aug 1, 2014·Nutrients·Tamara MarínSilvana Zanlungo
Nov 26, 2015·Biochimica Et Biophysica Acta·Pablo S ContrerasSilvana Zanlungo
Jan 5, 2016·L'Encéphale·A MaubertF Sedel
Nov 2, 2013·Neurologic Clinics·Eric Wexler
Aug 10, 2013·L'Encéphale·A MaubertJ-P Metton
Jan 22, 2013·Molecular Genetics and Metabolism·Chester Whitley
Mar 13, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christopher A WassifForbes D Porter
Oct 29, 2015·Proteomics·Judit Macías-VidalOriol Bachs
Mar 17, 2016·EBioMedicine·Janine ReunertThorsten Marquardt
Dec 31, 2015·Orphanet Journal of Rare Diseases·Linda CassisÁngels Garcia-Cazorla
Mar 5, 2016·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Ya Hui HungAshley I Bush
Jan 21, 2016·Case Reports in Pediatrics·Ryo SuzukiKousaku Ohno
Dec 17, 2015·BMC Neurology·Jackie ImrieKate Strong
Dec 6, 2014·Annals of General Psychiatry·Caroline Demily, Frédéric Sedel
Mar 5, 2016·Molecular Genetics and Metabolism Reports·C R GreenbergL E Seargeant
Sep 25, 2015·Neurology·Tatiana BremovaMichael Strupp
May 31, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Maria StamelouKailash P Bhatia
Apr 10, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Kailash P Bhatia
Mar 18, 2016·Journal of Neurology·Frédéric SedelDamien Galanaud
Mar 19, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Christos GanosKailash P Bhatia
Jan 15, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·B P C van de WarrenburgO Riess
May 2, 2014·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Robert H SquiresGeorge V Mazariegos
Nov 11, 2015·Nature Reviews. Neurology·Rodi ZuttMarina A Tijssen
Sep 5, 2015·Journal of Neurology·Matthis SynofzikPeter Bauer
Nov 2, 2013·Journal of Neurology·Mathieu AnheimChristine Tranchant
Aug 26, 2014·Journal of Neurology·A Burlina