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- [21] Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)ORPHANET JOURNAL OF RARE DISEASES, 2022, 17 (01)Bolton, Shaun C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandSoran, Vina论文数: 0 引用数: 0 h-index: 0机构: Univ Birmingham, Birmingham, W Midlands, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandMarfa, Mercedes Pineda论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Barcelona, Spain Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandImrie, Jackie论文数: 0 引用数: 0 h-index: 0机构: Int Niemann Pick Dis Registry, Newcastle Upon Tyne, Tyne & Wear, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: UCL, NIHR Great Ormond St Hosp, Biomed Res Ctr, London, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandJahnova, Helena论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Prague, Czech Republic Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandSharma, Reena论文数: 0 引用数: 0 h-index: 0机构: Salford Royal Fdn NHS Trust, Manchester, Lancs, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandJones, Simon论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, Manchester, Lancs, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandSantra, Saikat论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandCrushell, Ellen论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland Temple St, Dublin, Ireland Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandStampfer, Miriam论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Tubingen, Inst Med Genet & Angew Genom, Tubingen, Germany Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandColl, Maria Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Barcelona, Spain Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandDawson, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandMathieson, Toni论文数: 0 引用数: 0 h-index: 0机构: Int Niemann Pick Dis Registry, Newcastle Upon Tyne, Tyne & Wear, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandGreen, James论文数: 0 引用数: 0 h-index: 0机构: Int Niemann Pick Dis Registry, Newcastle Upon Tyne, Tyne & Wear, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandDardis, Andrea论文数: 0 引用数: 0 h-index: 0机构: AMC Hosp Udine, Reg Coordinator Ctr Rare Dis, Udine, Italy Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandBembi, Bruno论文数: 0 引用数: 0 h-index: 0机构: AMC Hosp Udine, Reg Coordinator Ctr Rare Dis, Udine, Italy Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandPatterson, Marc C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA Mayo Clin, Dept Pediat & Adolescent Med, Rochester, MN USA Mayo Clin, Dept Med Genet, Rochester, MN USA Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandVanier, Marie T.论文数: 0 引用数: 0 h-index: 0机构: INSERM, Lyon, France Hop Lyon, Lyon, France Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, EnglandGeberhiwot, Tarekegn论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, England Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, England
- [22] Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Orphanet Journal of Rare Diseases, 17Shaun C. Bolton论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreVina Soran论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreMercedes Pineda Marfa论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreJackie Imrie论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentrePaul Gissen论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreHelena Jahnova论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreReena Sharma论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreSimon Jones论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreSaikat Santra论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreEllen Crushell论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreMiriam Stampfer论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreMaria Jose Coll论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreCharlotte Dawson论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreToni Mathieson论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreJames Green论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreAndrea Dardis论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreBruno Bembi论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreMarc C. Patterson论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreMarie T. Vanier论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research CentreTarekegn Geberhiwot论文数: 0 引用数: 0 h-index: 0机构: University Hospitals Birmingham NHS Foundation Trust,NIHR Great Ormond Street Hospital Biomedical Research Centre
- [23] Quality of life in patients with Niemann-Pick disease type C and their carersMOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 106 - 106Pountney, Jackson论文数: 0 引用数: 0 h-index: 0机构: Aston Univ, Sch Psychol, Birmingham, England Aston Univ, Sch Psychol, Birmingham, EnglandDonnelly, Conan B.论文数: 0 引用数: 0 h-index: 0机构: Int Niemann Pick Dis Registry, Newcastle, NSW, Australia Aston Univ, Sch Psychol, Birmingham, England
- [24] Effects of cyclodextrin in two patients with Niemann-Pick Type C diseaseMOLECULAR GENETICS AND METABOLISM, 2013, 108 (01) : 76 - 81Matsuo, Muneaki论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Dept Pediat, Fac Med, Saga 8498501, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanTogawa, Masami论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Dept Child Neurol, Yonago, Tottori 683, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanHirabaru, Keiko论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Dept Pediat, Fac Med, Saga 8498501, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanMochinaga, Sakiko论文数: 0 引用数: 0 h-index: 0机构: Saga Univ Hosp, Fac Med, Dept Pharm, Saga, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanNarita, Aya论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Dept Child Neurol, Yonago, Tottori 683, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanAdachi, Masao论文数: 0 引用数: 0 h-index: 0机构: Kakogawa W City Hosp, Dept Pediat, Kakogawa Hosp Org, Kakogawa, Hyogo, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanEgashira, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Saga Univ, Dept Pediat, Fac Med, Saga 8498501, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanIrie, Tetsumi论文数: 0 引用数: 0 h-index: 0机构: Kumamoto Univ, Ctr Clin & Pharmaceut Sci, Fac Pharm, Kumamoto, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, JapanOhno, Kousaku论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Fac Med, Dept Child Neurol, Yonago, Tottori 683, Japan Saga Univ, Dept Pediat, Fac Med, Saga 8498501, Japan
- [25] Niemann-Pick disease type C: Characteristics of five Brazilian patientsMOVEMENT DISORDERS, 2012, 27 : S68 - S68Lorenzoni, P. J.论文数: 0 引用数: 0 h-index: 0Teive, H. A. G.论文数: 0 引用数: 0 h-index: 0Munhoz, R. P.论文数: 0 引用数: 0 h-index: 0Crippa, A. C. S.论文数: 0 引用数: 0 h-index: 0Werneck, L. C.论文数: 0 引用数: 0 h-index: 0Cardoso, E. H.论文数: 0 引用数: 0 h-index: 0Bruck, I.论文数: 0 引用数: 0 h-index: 0Lourenco, C.论文数: 0 引用数: 0 h-index: 0Scola, R. H.论文数: 0 引用数: 0 h-index: 0
- [26] Characterization of central manifestations in patients with Niemann-Pick disease type CGENETICS IN MEDICINE, 2024, 26 (03)van Gool, Raquel论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAGolden, Emma论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAGoodlett, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAZhang, Fan论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Dept Radiol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAVogel, Adam P.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Ctr Neurosci Speech, Melbourne, Australia Redenlab Inc, Melbourne, Australia Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USATourville, Jason A.论文数: 0 引用数: 0 h-index: 0机构: Boston Univ, Sargent Coll Hlth & Rehabil Sci, Dept Speech Language & Hearing Sci, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAYao, Kylie论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Ctr Neurosci Speech, Melbourne, Australia Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USACay, Mariesa论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USATiwari, Sneham论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAYang, Edward论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Radiol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAZekelman, Leo R.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Dept Radiol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USATodd, Nick论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Dept Radiol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAO'Donnell, Lauren J.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Dept Radiol, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USARen, Boyu论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, McLean Hosp, Dept Psychiat, Belmont, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USABodamer, Olaf A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAAl-Hertani, Walla论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Div Genet & Genom, Boston Childrens Hosp, Boston, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USAUpadhyay, Jaymin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USA Harvard Med Sch, McLean Hosp, Dept Psychiat, Belmont, MA USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Anesthesia, 300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Crit Care & Pain Med, Boston, MA USA
- [27] Niemann-Pick disease type C: a case series of Brazilian patientsARQUIVOS DE NEURO-PSIQUIATRIA, 2014, 72 (03) : 214 - 218Lorenzoni, Paulo Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilCardoso, Elaine论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilCrippa, Ana C. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilLoureno, Charles Marques论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, Ribeirao Preto, SP, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilSeabra Souza, Fernanda Timm论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilGiugliani, Roberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilSaraiva-Pereira, Maria Luiza论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS, Brazil Univ Fed Rio Grande do Sul, Dept Bioquim, Porto Alegre, RS, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilRaskin, Salmo论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilBruck, Isac论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilKay, Claudia S. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilScola, Rosana H.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilWerneck, Lineu C.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, BrazilTeive, Helio A. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil Univ Fed Parana, Dept Clin Med, Serv Neurol, BR-80060900 Curitiba, Parana, Brazil
- [28] Safety monitoring of miglustat in patients with Niemann-Pick disease type CMOLECULAR GENETICS AND METABOLISM, 2008, 93 (02) : S43 - S43Wraith, Ed论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, England Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, EnglandBeck, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Kinderklin, Mainz, Germany Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, EnglandImrie, Jackie论文数: 0 引用数: 0 h-index: 0机构: Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, England Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, EnglandPineda, Merce论文数: 0 引用数: 0 h-index: 0机构: Hosp San Juan Dios, Dept Neuropediat, Barcelona, Spain Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, EnglandSchwierin, Barbara论文数: 0 引用数: 0 h-index: 0机构: Actelion Pharmaceut Ltd, Allschwil, Switzerland Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, EnglandBembi, Bruno论文数: 0 引用数: 0 h-index: 0机构: Inst Infanzia Burlo Garofolo, Trieste, Italy Royal Manchester Childrens Hosp, Biochem Genet Unit, Manchester M27 1HA, Lancs, England
- [29] New variants in Spanish Niemann-Pick type c disease patientsMOLECULAR BIOLOGY REPORTS, 2020, 47 (03) : 2085 - 2095Lopez de Frutos, Laura论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, Spain Fdn Estudio & Terapeut Enfermedad Gaucher & Otras, Zaragoza, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, SpainCebolla, Jorge J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, Spain Fdn Estudio & Terapeut Enfermedad Gaucher & Otras, Zaragoza, Spain Univ Zaragoza, Dept Bioquim Biol Mol & Celular, Fac Ciencias, Zaragoza, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, SpainAldamiz-Echevarria, Luis论文数: 0 引用数: 0 h-index: 0机构: GCV Ciberer, Biocruces Bizkaia Hlth Res Inst, Baracaldo, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, Spainde la Vega, Angela论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Paz, Unidad Hepatol Infantil, Madrid, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, SpainStanescu, Sinziana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon & Cajal, Unidad Enfermedades Metabol, Madrid, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, SpainLahoz, Carlos论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, Spain Fdn Estudio & Terapeut Enfermedad Gaucher & Otras, Zaragoza, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, SpainIrun, Pilar论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Zaragoza, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, SpainGiraldo, Pilar论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, Spain Fdn Estudio & Terapeut Enfermedad Gaucher & Otras, Zaragoza, Spain Hosp Quiron Salud, Zaragoza, Spain Hosp Univ Miguel Servet, Fdn Inst Invest Sanitaria Aragon IIS Aragon GIIS, Unidad Invest Traslac, Edificio Gen,Planta 0 Paseo Isabel Catolica 1-3, Zaragoza 50009, Spain
- [30] Safety monitoring of miglustat in patients with Niemann-Pick disease type CJOURNAL OF NEUROLOGY, 2009, 256 : S167 - S167Pineda, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Barcelona, SpainWraith, J. E.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Barcelona, SpainMengel, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Barcelona, SpainImrie, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Barcelona, SpainSchwierin, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Barcelona, SpainBembi, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu, Barcelona, Spain