共 50 条
- [1] A review of aromatic l-amino acid decarboxylase (AADC) deficiency in TaiwanAMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2019, 181 (02) : 226 - 229Lee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanHwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Coll Med, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
- [2] AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY: TREATMENT WITH LIORESALJOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S130 - S130Maertens, P.论文数: 0 引用数: 0 h-index: 0机构: Univ S Alabama, Mobile, AL 36688 USA Univ S Alabama, Mobile, AL 36688 USAFoster, E.论文数: 0 引用数: 0 h-index: 0机构: Univ S Alabama, Mobile, AL 36688 USA Univ S Alabama, Mobile, AL 36688 USA
- [3] AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY IN UK: BURDEN OF DISEASEVALUE IN HEALTH, 2022, 25 (01) : S263 - S263Boehnke, A.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut Germany GmbH, Frankfurt, Germany PTC Therapeut Germany GmbH, Frankfurt, GermanyBalman, E.论文数: 0 引用数: 0 h-index: 0机构: MAP BioPharma Ltd, Cambridge, England PTC Therapeut Germany GmbH, Frankfurt, GermanyDavidson, I论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut Ltd, Guildford, Surrey, England PTC Therapeut Germany GmbH, Frankfurt, GermanyHobdell, K.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut Ltd, Guildford, Surrey, England PTC Therapeut Germany GmbH, Frankfurt, GermanyRance, M.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut Ltd, Guildford, Surrey, England PTC Therapeut Germany GmbH, Frankfurt, GermanyBuesch, K.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut Switzerland GmbH, Steinhausen, Switzerland PTC Therapeut Germany GmbH, Frankfurt, Germany
- [4] DISEASE BURDEN OF AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY: SIGNS AND SYMPTOMSVALUE IN HEALTH, 2022, 25 (01) : S124 - S124Saberian, S.论文数: 0 引用数: 0 h-index: 0机构: Open Hlth, Marlowe, England Open Hlth, Marlowe, EnglandRowan, P.论文数: 0 引用数: 0 h-index: 0机构: Open Hlth, Marlowe, England Open Hlth, Marlowe, EnglandHammes, F.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut France, Paris, France Open Hlth, Marlowe, EnglandPatel, P.论文数: 0 引用数: 0 h-index: 0机构: Open Hlth, Marlowe, England Open Hlth, Marlowe, EnglandFernandez-Cortes, F.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut, Madrid, Spain Open Hlth, Marlowe, Englandde Zarate, Beitia Ortiz, I论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut, Paris 75, France Open Hlth, Marlowe, EnglandBuesch, K.论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut Switzerland GmbH, Steinhausen, Switzerland Open Hlth, Marlowe, England
- [5] An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) DeficiencyMOLECULAR THERAPY, 2015, 23 : S103 - S103Hwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanMuramatsu, Shin-Ichi论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Shimotsuke, Japan Natl Taiwan Univ Hosp, Taipei, TaiwanLee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanTseng, Sheng-Hong论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanTzen, Kai-Yuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanSnyder, Richard O.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Gainesville, FL USA Natl Taiwan Univ Hosp, Taipei, TaiwanByrne, Barry J.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Gainesville, FL USA Natl Taiwan Univ Hosp, Taipei, TaiwanTai, Chun-Hwei论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, TaiwanWu, Ruey-Meei论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Taipei, Taiwan
- [6] Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic ReviewBEHAVIOURAL NEUROLOGY, 2022, 2022Rizzi, Susanna论文数: 0 引用数: 0 h-index: 0机构: Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalySpagnoli, Carlotta论文数: 0 引用数: 0 h-index: 0机构: Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyFrattini, Daniele论文数: 0 引用数: 0 h-index: 0机构: Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyPisani, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Child Neurol Unit, I-43100 Parma, Italy Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyFusco, Carlo论文数: 0 引用数: 0 h-index: 0机构: Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Presidio Osped Santa Maria Nuova, AUSL IRCCS Reggio Emilia, Dept Pediat, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy
- [7] Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyOrphanet Journal of Rare Diseases, 12Tessa Wassenberg论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyMarta Molero-Luis论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyKathrin Jeltsch论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyGeorg F. Hoffmann论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyBirgit Assmann论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyNenad Blau论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyAngeles Garcia-Cazorla论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyRafael Artuch论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyRoser Pons论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyToni S. Pearson论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyVincenco Leuzzi论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyMario Mastrangelo论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyPhillip L. Pearl论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyWang Tso Lee论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyManju A. Kurian论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologySimon Heales论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyLisa Flint论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyMarcel Verbeek论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyMichèl Willemsen论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child NeurologyThomas Opladen论文数: 0 引用数: 0 h-index: 0机构: Radboud university medical center,Department of Neurology and Child Neurology
- [8] Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyORPHANET JOURNAL OF RARE DISEASES, 2017, 12Wassenberg, Tessa论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsMolero-Luis, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu Barcelona, Dept Clin Biochem, CIBERER ISCIII, Barcelona, Spain Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsJeltsch, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Child Neurol & Metab Disorders, Heidelberg, Germany Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Child Neurol & Metab Disorders, Heidelberg, Germany Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsAssmann, Birgit论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Child Neurol & Metab Disorders, Heidelberg, Germany Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsBlau, Nenad论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dietmar Hopp Metab Ctr, Heidelberg, Germany Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsGarcia-Cazorla, Angeles论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu Barcelona, Dept Child Neurol, CIBERER ISCIII, Barcelona, Spain Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsArtuch, Rafael论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan Deu Barcelona, Dept Clin Biochem, CIBERER ISCIII, Barcelona, Spain Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsPons, Roser论文数: 0 引用数: 0 h-index: 0机构: Univ Athens, Pediat Neurol Unit, Dept Pediat 1, Agia Sofia Hosp, Athens, Greece Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsPearson, Toni S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsLeuzzi, Vincenco论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Roma, Dept Pediat & Child Neuropsychiat, Rome, Italy Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsMastrangelo, Mario论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Roma, Dept Pediat & Child Neuropsychiat, Rome, Italy Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsPearl, Phillip L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Epilepsy & Clin Neurophysiol, Boston, MA USA Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsLee, Wang Tso论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pediat, Taipei, Taiwan Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsKurian, Manju A.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, UCL Inst Child Hlth, Dev Neurosci, London, England Great Ormond St Hosp Children NHS Fdn Trust, Dept Neurol, London, England Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsHeales, Simon论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Lab Med, London, England Natl Hosp, Neurometab Unit, London, England Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsFlint, Lisa论文数: 0 引用数: 0 h-index: 0机构: AADC Res Trust, London, England Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsVerbeek, Marcel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsWillemsen, MichSl论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Lab Med, Alzheimer Ctr, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, NetherlandsOpladen, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Child Neurol & Metab Disorders, Heidelberg, Germany Radboud Univ Nijmegen, Dept Neurol & Child Neurol, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands
- [9] Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiencyNEUROBIOLOGY OF DISEASE, 2013, 52 : 177 - 190Lee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10041, Taiwan Natl Taiwan Univ, Grad Inst Clin Med, Coll Med, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanShieh, Yih-Dar论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanTzen, Kai-Yuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Nucl Med, Taipei 10002, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10002, Taiwan Natl Taiwan Univ, Mol Imaging Ctr, Taipei 10764, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanYu, I-Shing论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanChen, Pin-Wen论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanHu, Min-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanHu, Meng-kai论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, TaiwanMuramatsu, Shin-ichi论文数: 0 引用数: 0 h-index: 0机构: Jichi Med Univ, Div Neurol, Dept Med, Shimotsuke, Tochigi 3290498, Japan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan论文数: 引用数: h-index:机构:Hwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan Natl Taiwan Univ, Coll Med, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 10041, Taiwan
- [10] Atypical Presentation of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency with Developmental Epileptic EncephalopathyJOURNAL OF PEDIATRIC EPILEPSY, 2021, 10 (03) : 124 - 127Marchese, Francesca论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyFaedo, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyVari, Maria Stella论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyBergonzini, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Modena, Dept Pediat, Osped Policlin, Modena, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyIacomino, Michele论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini Inst, Human Genet Unit, Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyGuerra, Azzurra论文数: 0 引用数: 0 h-index: 0机构: Univ Modena, Dept Pediat, Osped Policlin, Modena, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyFranceschetti, Laura论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut, Rome, RM, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyBaroni, Alessandra论文数: 0 引用数: 0 h-index: 0机构: PTC Therapeut, Rome, RM, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyScudieri, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS G Gaslini Inst, Human Genet Unit, Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyMinetti, Carlo论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, ItalyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy