المؤلفون: Guha, Sanjib Kumar

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: Pujol, Aurora, Dalfó Capella, Esther

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: X-linked adrenoleukodystrophy (X-ALD), C. elegans, Mithocondrial oxidative stress, Axonal degeneration, Cellular anti-oxidants, Chemosensation, Adrenoleucodistrofia ligada al cromosoma X, Estrés oxidativo mitocondrial, Degeneración axonal, Antooxidantes celulares, Quimiosensación

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/328717

المؤلفون: Jiang, Wei^{Aff1, Aff4}, Jin, Wei, Zhao, Hulin, Huang, Dehui^{Aff1, IDs1376002302295x_cor4}, Wu, Lei^{Aff1, IDs1376002302295x_cor5}

المصدر: Acta Neurologica Belgica. 123(6):2259-2268

المؤلفون: Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders, Alberto Burlina

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Peroxisomal disorders, Zellweger spectrum disorders, X-linked adrenoleukodystrophy, Oxidative stress, Autophagy, Mitogen-activated protein kinases (MAPKs), Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c58590f104974169867af1cbdb4fa339

المؤلفون: Gragnaniello, Vincenza^{Aff1, Aff2}, Gueraldi, Daniela, Puma, Andrea, Commone, Anna, Cazzorla, Chiara, Loro, Christian, Porcù, Elena, Stornaiuolo, Maria, Miglioranza, Paolo, Salviati, Leonardo, Wanders, Ronald J. A.^{Aff4, Aff5}, Burlina, Alberto^{Aff1, Aff2, IDs1302302302940x_cor12}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Zhu, Zhixing, Genchev, Georgi Z., Wang, Yanmin, Ji, Wei, Zhang, Xiaofen, Lu, Hui^{Aff1, Aff4, IDs1302302302673x_cor6}, Sriswasdi, Sira^{Aff2, IDs1302302302673x_cor7}, Tian, Guoli^{Aff3, Aff5, IDs1302302302673x_cor8}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Chaoyue Zhao, Hanhong Zhu, Jie Wang, Wenlong Liu, Yongzhen Xue, Yanyan Hu

المصدر: Heliyon, Vol 10, Iss 7, Pp e28987- (2024)

مصطلحات موضوعية: X-linked adrenoleukodystrophy, Central precocious puberty, ABCD1, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024050187; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/58213a6086c84e2d812b116e6294ba36

المؤلفون: Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: X-ALD, X-linked adrenoleukodystrophy (X-ALD), Zellweger Spectrum Disorders, Aicardi-Goutières syndrome (AGS), hematopoietic stem cell transplantation (HCST), newborn screening (NBS), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1376447/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3fe63f5679824882a78a685fa671eea6

المؤلفون: Marco Cappa, Tommaso Todisco, Carla Bizzarri

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: X-linked adrenoleukodystrophy, primary adrenal insufficiency, very long chain fatty acids, adrenal function, cortisol replacement, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1309053/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/ad1af5f6b7e1432791382669afe65135

المؤلفون: Dinkin, Marc^Aff3

المساهمون: Heidary, Gena, editor^Aff1, Phillips, Paul H., editor^Aff2

المصدر: Fundamentals of Pediatric Neuro-Ophthalmology : A Practical, Case-Based Approach to Diagnosis and Management. :259-263

المؤلفون: Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi, Guoli Tian

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: X-linked adrenoleukodystrophy, X-ALD, Zellweger syndrome, Very long chain fatty acids, C26: carnitine, Hexacosanoylcarnitine, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/07e1aa6dcf004addaffa4290fcf2b61f