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- [1] Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patientsORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)Mole, Sara E.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandSchulz, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Hamburg Eppendorf, Hamburg, Germany UCL, London, EnglandBadoe, Eben论文数: 0 引用数: 0 h-index: 0机构: Univ Ghana, Korle Bu Teaching Hosp, Med Sch, Accra, Ghana UCL, London, EnglandBerkovic, Samuel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth Victoria, Heidelberg, Vic, Australia UCL, London, Englandde Los Reyes, Emily C.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA UCL, London, EnglandDulz, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Hamburg Eppendorf, Hamburg, Germany UCL, London, EnglandGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England NIHR Great Ormond St Hosp, Biomed Res Ctr, London, England UCL, London, EnglandGuelbert, Norberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Ninos La Santisima Trinidad, Cordoba, Argentina UCL, London, EnglandLourenco, Charles M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med Ribeirao Preto, Riberirao Preto, Brazil UCL, London, EnglandMason, Heather L.论文数: 0 引用数: 0 h-index: 0机构: Coufetery Comms, Lapenne, France UCL, London, EnglandMink, Jonathan W.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Golisano Childrens Hosp, Rochester, NY 14642 USA UCL, London, EnglandMurphy, Noreen论文数: 0 引用数: 0 h-index: 0机构: Batten Dis Support & Res Assoc BDSRA, Columbus, OH USA UCL, London, EnglandNickel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Hamburg Eppendorf, Hamburg, Germany UCL, London, EnglandOlaya, Joffre E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Orange Cty, Orange, CA USA UCL, London, EnglandScarpa, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Udine, Reg Coordinating Ctr Rare Dis, Udine, Italy UCL, London, EnglandScheffer, Ingrid E.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth Victoria, Heidelberg, Vic, Australia Royal Childrens Hosp, Florey Childrens Res Inst, Melbourne, Vic, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia UCL, London, EnglandSimonati, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Verona, Sch Med, Dept Surg Dent Paediat & Gynaecol, Verona, Italy UCL, London, EnglandSpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, Rome, Italy UCL, London, EnglandVon Loebbecke, Ina论文数: 0 引用数: 0 h-index: 0机构: Practice Child Physiotherapy, Hamburg, Germany UCL, London, EnglandWang, Raymond Y.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Orange Cty, Orange, CA USA UCL, London, EnglandWilliams, Ruth E.论文数: 0 引用数: 0 h-index: 0机构: London Childrens Hosp, Evelina, London, England UCL, London, England
- [2] Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts groupARQUIVOS DE NEURO-PSIQUIATRIA, 2023, 81 (03) : 284 - 295Sampaio, Leticia Pereira de Brito论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, Brazilde Manreza, Maria Luiza Giraldes论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, BrazilPessoa, Andre论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Ceara, Hosp Infantil Albert Sabin, Fortaleza, CE, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, BrazilGurgel-Giannetti, Juliana论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Minas Gerais, Hosp Clin, Fac Med, Belo Horizonte, MG, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, BrazilCoan, Ana Carolina论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Fac Ciencias Med, Campinas, SP, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, Brazilvan der Linden Junior, Helio论文数: 0 引用数: 0 h-index: 0机构: Inst Neurol Goiania, Goiania, GO, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, BrazilEmbirucu, Emilia Katiane论文数: 0 引用数: 0 h-index: 0机构: Univ Estado Bahia, Hosp Univ Prof Edgard Santos, Salvador, BA, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, BrazilHenriques-Souza, Adelia Maria de Miranda论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, BrazilKok, Fernando论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin, Fac Med, Sao Paulo, SP, Brazil
- [3] Management Strategies for CLN2 DiseasePEDIATRIC NEUROLOGY, 2017, 69 : 102 - 112Williams, Ruth E.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, England Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandAdams, Heather R.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Sch Med, Rochester, NY USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandBlohm, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandCohen-Pfeffer, Jessica L.论文数: 0 引用数: 0 h-index: 0机构: BioMarin Pharmaceut Inc, Novato, CA USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, Englandde los Reyes, Emily论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat Neurol, Columbus, OH USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandDrago, Kristen论文数: 0 引用数: 0 h-index: 0机构: Journeycare Children, Chicago, IL USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandFairhurst, Charlie论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, England Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandFrazier, Margie论文数: 0 引用数: 0 h-index: 0机构: BDSRA, Columbus, OH USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandGuelbert, Norberto论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cordoba, Metab Dis Sect, Cordoba, Argentina Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandKiss, Szilard论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, Dept Ophthalmol, New York, NY USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandKofler, Annamaria论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Rome, Italy Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandLawson, John A.论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Dept Neurol, Randwick, NSW, Australia Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandLehwald, Lenora论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat Neurol, Columbus, OH USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandLeung, Mary-Anne论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, England Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandMikhaylova, Svetlana论文数: 0 引用数: 0 h-index: 0机构: Russian Childrens Clin Hosp, Dept Med Genet, Moscow, Russia Russian Natl Res Med Univ, Dept Mol & Cell Genet, Moscow, Russia Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandMink, Jonathan W.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Dept Neurol, Sch Med, Rochester, NY USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandNickel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandShediac, Renee论文数: 0 引用数: 0 h-index: 0机构: BioMarin Pharmaceut Inc, Novato, CA USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandSims, Katherine论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandSpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Dept Neurosci, Rome, Italy Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandTopcu, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Dept Pediat Neurol, Ankara, Turkey Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, Englandvon Loebbecke, Ina论文数: 0 引用数: 0 h-index: 0机构: Practice Paediat Physiotherapy, Hamburg, Germany Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, EnglandWest, Andrea论文数: 0 引用数: 0 h-index: 0机构: BDFA, Farnborough, Hants, England Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, England论文数: 引用数: h-index:机构:Schulz, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Evelina London Childrens Hosp, Childrens Neurosci Ctr, London, England
- [4] Expert opinion on the management of CLN2 diseaseMOLECULAR GENETICS AND METABOLISM, 2016, 117 (02) : S103 - S104Schulz, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyAdams, Heather R.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Sch Med, Rochester, NY USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyBlohm, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyCohen-Pfeffer, Jessica L.论文数: 0 引用数: 0 h-index: 0机构: BioMarin Pharmaceut Inc, Novato, CA USA Univ Med Ctr Hamburg Eppendorf, Hamburg, Germanyde los Reyes, Emily论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyDrago, Kristen论文数: 0 引用数: 0 h-index: 0机构: Joumeycare Children, Chicago, IL USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyFairhurst, Charlie论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyFrazier, Margie论文数: 0 引用数: 0 h-index: 0机构: BDSRA, Columbus, OH USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyGuelbert, Norberto论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cordoba, Cordoba, Argentina Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyKiss, Szilard论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyKofler, Annamaria论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Rome, Italy Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyLawson, John论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Sydney, NSW, Australia Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyLehwald, Lenora论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyLeung, Mary-Anne论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyMikhailova, Svetlana论文数: 0 引用数: 0 h-index: 0机构: Russian Reg Pediat Hosp, Moscow, Russia Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyMink, Jonathan W.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Sch Med, Rochester, NY USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyNickel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyShediac, Renee论文数: 0 引用数: 0 h-index: 0机构: BioMarin Pharmaceut Inc, Novato, CA USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanySims, Katherine论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanySpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, IRCCS, Rome, Italy Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyTopcu, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Ankara, Turkey Univ Med Ctr Hamburg Eppendorf, Hamburg, Germanyvon Loebbecke, Ina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyWest, Andrea论文数: 0 引用数: 0 h-index: 0机构: BDFA, Farnborough, Hants, England Univ Med Ctr Hamburg Eppendorf, Hamburg, GermanyWilliams, Ruth E.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany
- [5] EXPERT OPINION ON THE MANAGEMENT OF CLN2 DISEASEMOLECULAR GENETICS AND METABOLISM, 2016, 117 (03) : 293 - 293Williams, Ruth E.论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Evelina London Childrens Hosp, London, EnglandCohen-Pfeffer, Jessica论文数: 0 引用数: 0 h-index: 0机构: BioMarin Pharmaceut Inc, Novato, CA USA Evelina London Childrens Hosp, London, EnglandAdams, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Sch Med, Rochester, NY USA Evelina London Childrens Hosp, London, EnglandBlohm, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Evelina London Childrens Hosp, London, Englandde los Reyes, Emily论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Evelina London Childrens Hosp, London, EnglandDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Evelina London Childrens Hosp, London, EnglandDrago, Kristen论文数: 0 引用数: 0 h-index: 0机构: Journeycare Children, Chicago, IL USA Evelina London Childrens Hosp, London, EnglandFairhurst, Charlie论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Evelina London Childrens Hosp, London, EnglandFrazier, Margie论文数: 0 引用数: 0 h-index: 0机构: BDSRA, Columbus, OH USA Evelina London Childrens Hosp, London, EnglandGuelbert, Norberto论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cordoba, Cordoba, Argentina Evelina London Childrens Hosp, London, EnglandKiss, Szilard论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Evelina London Childrens Hosp, London, EnglandKofler, Annamaria论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Rome, Italy Evelina London Childrens Hosp, London, EnglandLawson, John论文数: 0 引用数: 0 h-index: 0机构: Sydney Childrens Hosp, Sydney, NSW, Australia Evelina London Childrens Hosp, London, EnglandLehwald, Lenora论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Columbus, OH USA Evelina London Childrens Hosp, London, EnglandLeung, Mary-Anne论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, England Evelina London Childrens Hosp, London, EnglandMikhailova, Svetlana论文数: 0 引用数: 0 h-index: 0机构: Russian Reg Pediat Hosp, Moscow, Russia Evelina London Childrens Hosp, London, EnglandMink, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Sch Med, Rochester, NY USA Evelina London Childrens Hosp, London, EnglandNickel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Evelina London Childrens Hosp, London, EnglandShediac, Renee论文数: 0 引用数: 0 h-index: 0机构: BioMarin Pharmaceut Inc, Novato, CA USA Evelina London Childrens Hosp, London, EnglandSims, Katherine论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Boston, MA 02114 USA Evelina London Childrens Hosp, London, EnglandSpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Rome, Italy Evelina London Childrens Hosp, London, EnglandTopcu, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Ankara, Turkey Evelina London Childrens Hosp, London, Englandvon Lobbecke, Ina论文数: 0 引用数: 0 h-index: 0机构: Evelina London Childrens Hosp, London, EnglandWest, Andrea论文数: 0 引用数: 0 h-index: 0机构: BDFA, Farnborough, Hants, England Evelina London Childrens Hosp, London, EnglandSchulz, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany Evelina London Childrens Hosp, London, England
- [6] An algorithm for CLN2 DiagnosisMEDICINE, 2019, 98 (26)Leao, Miguel论文数: 0 引用数: 0 h-index: 0机构: S Joao Univ Hosp Ctr, Dept Genet, Neurogenet Unit, Porto, Portugal S Joao Univ Hosp Ctr, Dept Genet, Neurogenet Unit, Porto, Portugal
- [7] Retinal degeneration in patients with CLN2 diseaseINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)Dulz, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, GermanySchwering, Christoph论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Med Univ Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, GermanyWibbeler, Eva论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Med Univ Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, GermanyNickel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Med Univ Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, GermanySpitzer, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, GermanySchulz, Angela论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Med Univ Ctr Hamburg Eppendorf, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, GermanyAtiskova, Yevgeniya论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Ophthalmol, Hamburg, Germany
- [8] LINCE project: A fast diagnosis of CLN2 diseaseMOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) : S44 - S44Crujeiras, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, Spain Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, SpainRodrigues, Daniel C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, Spain Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, SpainCocho, Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, Spain Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, SpainCouce Pico, Maria Luz论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, Spain Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, SpainColon Mejeras, Cristobal论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, Spain Hosp Clin Univ Santiago de Compostela, Santiago De Compostela, Spain
- [9] Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?NEUROPEDIATRICS, 2023, 54 (06) : 402 - 406Nickel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Martinistr 52, D-20246 Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Hosp, Natl Inst Hlth Res, Biomed Res Ctr, London, England Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyGreenaway, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Neurodisabil Serv, London, England Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyCappelletti, Simona论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Rare & Complex Epilepsy Unit, European Reference Network EpiCARE, Rome, Italy Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyHamborg, Christiane论文数: 0 引用数: 0 h-index: 0机构: Hirtenweg Sch, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyRagni, Benedetta论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Rare & Complex Epilepsy Unit, European Reference Network EpiCARE, Rome, Italy Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyRibitzki, Tanja论文数: 0 引用数: 0 h-index: 0机构: Hirtenweg Sch, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanySchulz, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanyTondo, Ilaria论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Rare & Complex Epilepsy Unit, European Reference Network EpiCARE, Rome, Italy Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, GermanySpecchio, Nicola论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Bambino Gesu Childrens Hosp, Rare & Complex Epilepsy Unit, European Reference Network EpiCARE, Rome, Italy Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany
- [10] MRI in CLN2 disease patients: Subtle features that support an early diagnosisEUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020, 28 : 228 - 236Aydin, Kursad论文数: 0 引用数: 0 h-index: 0机构: Medipol Univ, Fac Med, Istanbul, Turkey Medipol Univ, Fac Med, Istanbul, TurkeyHavali, Cengiz论文数: 0 引用数: 0 h-index: 0机构: High Specialty Training & Res Hosp, Bursa, Turkey Medipol Univ, Fac Med, Istanbul, TurkeyKartal, Ayse论文数: 0 引用数: 0 h-index: 0机构: Selcuk Univ, Fac Med, Konya, Turkey Medipol Univ, Fac Med, Istanbul, TurkeySerdaroglu, Ayse论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Ankara, Turkey Medipol Univ, Fac Med, Istanbul, TurkeyHaspolat, Senay论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Fac Med, Antalya, Turkey Medipol Univ, Fac Med, Istanbul, Turkey