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From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series 从新生儿脑病到成人存活：多中心国际病例系列中重新审视D-双功能蛋白缺乏的自然史 Diaz-Moreno, U.; Brothwell, S. L. C.; Darling, A.; Baide-Mairena, H.; Lemonde, H.; Turon-Vinas, E.; Korenev, S.; Ibanez, S.; Beesley, C.; Gissen, P.; Parida, A.; Santra, S.; Wassmer, E.; Batzios, S. 分享 收藏
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Gangliosidoses: Understanding disease evolution in GM1 and GM2 Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Hahn, Andreas; Patterson, Marc; Bourchany, Aurelie; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez 分享 收藏
Application of a natural history study on an investigational drug clinical development Giugliani, Roberto; Valle, Daniel A. D.; Heron, Benedicte; Harmatz, Paul; Hahn, Andreas; Horovitz, Dafne D. G.; Patterson, Marc; Bourchany, Aurelie; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez 分享 收藏
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) Heron, Benedicte; Batzios, Spyros; Mengel, Eugen; Giugliani, Roberto; Patterson, Marc; Gautschi, Matthias; Cornelisse, Peter; Trokan, Luba; Schwierin, Barbara; Rohrbach, Marianne 分享 收藏
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A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Meyer, Elisa; Thiers, Aurelien; Luzy, Cecile Paquet 分享 收藏
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Thiers, Aurelien; Luzy, Cecile Paquet 分享 收藏
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments Giugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Patterson, Marc; Schneider, Susanne; Bourchany, Aurelie; Hahn, Andreas; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Carp, Nicoleta; Crapard, Laetitia; de Frutos, Laura Lopez; Quintela, Renata Medinaceli; Thiers, Aurelien; Luzy, Cecile Paquet 分享 收藏
Neuroimaging Features of Biotinidase Deficiency Biswas, A.; McNamara, C.; Gowda, V. K.; Gala, F.; Sudhakar, S.; Sidpra, J.; Vari, M. S.; Striano, P.; Blaser, S.; Severino, M.; Batzios, S.; Mankad, K. 分享 收藏
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B Muschol, Nicole; Koehn, Anja; von Cossel, Katharina; Okur, Ilyas; Ezgu, Fatih; Harmatz, Paul; Lopez, Maria J. de Castro; Couce, Maria Luz; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Nestrasil, Igor; Kaufman, Brian; Shaywitz, Adam J.; Maricich, Stephen M.; Kuca, Bernice; Kovalchin, Joseph; Zanelli, Eric 分享 收藏
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB Okur, Ilyas; Ezgu, Fatih; Giugliani, Roberto; Muschol, Nicole; Koehn, Anja; Amartino, Hernan; Harmatz, Paul; de Castro Lopez, Maria J.; Luz Couce, Maria; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Peters, Heidi; Lee, Joy; Nestrasil, Igor; Shaywitz, Adam J.; Maricich, Stephen M.; Kuca, Bernice; Kovalchin, Joseph; Zanelli, Eric 分享 收藏
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter Batzios, Spyros; Tal, Galit; DiStasio, Andrew T.; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley H.; Mandel, Hanna; Steinbach, Peter J.; Yi, Ling; Fair, Summer R.; Hester, Mark E.; Drousiotou, Anthi; Kaler, Stephen G. 分享 收藏
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter Kaler, Stephen; Batzios, Spyros; Tal, Galit; DiStasio, Andrew; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley; Mandel, Hanna; Steinbach, Peter; Yi, Ling; Fair, Summer; Heste, Mark; Drousiotou, Anthi 分享 收藏
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima 分享 收藏
Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B Muschol, Nicole; von Cossel, Katharina; Okur, Ilyas; Ezgu, Fatih; de Castro Lopez, Maria; Luz Couce, Maria; Harmatz, Paul; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Lin, Shaun-Pei; Giugliani, Roberto; Amartino, Hernan; Peters, Heidi; Lee, Joy; Kovalchin, Joseph; Zanelli, Eric; Maricich, Stephen 分享 收藏
Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies Giugliani, Roberto; Okur, Ilyas; Ezgu, Fatih; Muschol, Nicole; Harmatz, Paul; de Castro Lopez, Maria; Luz Couce, Maria; Lin, Shuan-Pei; Batzios, Spyros; Cleary, Maureen; Solano, Martha; Amartino, Hernan; Peters, Heidi; Lee, Joy; Kovalchin, Joseph; Zanelli, Eric; Maricich, Stephen M. 分享 收藏
The RETRIEVE Study: A natural history study of type 2 Gaucher disease, and GM1 and GM2 gangliosidoses with early onset, in preparation of a clinical trial Heron-Longe, Benedicte; Batzios, Spyros; Mengel, Eugen; Giugliani, Roberto; Patterson, Marc; Gautschi, Matthias; Alcantara, Jose; Cornelisse, Peter; Trokan, Luba; Schwierin, Barbara; Rohrbach, Marianne 分享 收藏
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK Pinto, Alex; Ashmore, Catherine; Batzios, Spyros; Daly, Anne; Dawson, Charlotte; Dixon, Marjorie; Evans, Sharon; Green, Diane; Gribben, Joanna; Hunjan, Inderdip; Jameson, Elisabeth; Newby, Camille; Pierre, Germaine; Rajwal, Sanjay; Robertson, Louise; Santra, Si; Sharrard, Mark; Vara, Roshni; White, Lucy; Wilcox, Gisela; Yilmaz, Ozlem; MacDonald, Anita 分享 收藏
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