المؤلفون: Byrne, Barry, Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Clemens, Paula, Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans, Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida, Johnson, Franklin, Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen

المصدر: Journal of Neurology. 271(4)

مصطلحات موضوعية: n-Butyldeoxynojirimycin, Alpha glucosidases, Glycogen storage disease type II, Lysosomal storage diseases, Myozyme, Pharmacokinetics, Adult, Humans, Glycogen Storage Disease Type II, Treatment Outcome, alpha-Glucosidases, Indoles, Enzyme Replacement Therapy, Propionates, 1-Deoxynojirimycin

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4639m33cTest

المؤلفون: Zhao, Yawen, Zhu, Ying, Li, Fan, Sun, Yunchuang, Ma, Wei, Wu, Yuan, Zhang, Wei, Wang, Zhaoxia, Yuan, Yun, Huang, Yining

المصدر: Journal of Neurology; Oct2023, Vol. 270 Issue 10, p4939-4948, 10p

مصطلحات موضوعية: LACUNAR stroke, ANGIOKERATOMA corporis diffusum, CEREBRAL small vessel diseases, LYSOSOMAL storage diseases, MAGNETIC resonance imaging, CEREBRAL atrophy

المؤلفون: Kolb, Stefan A.

المصدر: Journal of Neurology; Apr2023, Vol. 270 Issue 4, p2317-2319, 3p

مصطلحات موضوعية: COGNITIVE ability, WELL-being, LYSOSOMAL storage diseases, TYPE 2 diabetes, EXECUTIVE function, CEREBELLUM degeneration, GLYCOGEN storage disease type II

المؤلفون: Kresojević, Nikola, Dobričić, Valerija, Lukić, Milica Ječmenica, Tomić, Aleksandra, Petrović, Igor, Dragašević, Nataša, Perović, Ivana, Marjanović, Ana, Branković, Marija, Janković, Milena, Novaković, Ivana, Svetel, Marina, Kostić, Vladimir S.

المصدر: Journal of Neurology; Jun2022, Vol. 269 Issue 6, p3167-3174, 8p

مصطلحات موضوعية: GLYCOGEN storage disease type II, GENETIC variation, PHENOTYPIC plasticity, RECESSIVE genes, DELAYED diagnosis, MOVEMENT disorders, LYSOSOMAL storage diseases

مصطلحات جغرافية: SERBIA

المؤلفون: Synofzik, Matthis matthis.synofzik@uni-tuebingen.de, Fleszar, Zofia, Schöls, Ludger, Just, Jennifer, Bauer, Peter¹, Torres Martin, Juan², Kolb, Stefan³

المصدر: Journal of Neurology. Oct2016, Vol. 263 Issue 10, p1911-1918. 8p. 2 Charts, 5 Graphs.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *DIAGNOSIS, *MEDICAL screening, *ATAXIA

المؤلفون: Lyndon, D., Davagnanam, I., Wilson, D., Jichi, F., Merwick, A., Bolsover, F., Jager, H. R., Cipolotti, L., Wheeler-Kingshott, C., Hughes, D., Murphy, E., Lachmann, R., Werring, D. J.

المصدر: Journal of Neurology; Mar2021, Vol. 268 Issue 3, p872-878, 7p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, CEREBRAL small vessel diseases, EXTRACELLULAR fluid, LYSOSOMAL storage diseases, WHITE matter (Nerve tissue), DIAGNOSIS

المؤلفون: Sedel, Frédéric frederic.sedel@medday-pharma.com, Chabrol, Brigitte¹, Audoin, Bertrand², Kaphan, Elsa³, Tranchant, Christine⁴, Burzykowski, Tomasz⁵, Tourbah, Ayman⁶, Vanier, Marie⁷, Galanaud, Damien⁸

المصدر: Journal of Neurology. May2016, Vol. 263 Issue 5, p927-936. 10p.

مصطلحات موضوعية: *NIEMANN-Pick diseases, *LYSOSOMAL storage diseases, *GLYCOSPHINGOLIPIDS, *SPECTRUM analysis, *NEUROLOGIC manifestations of general diseases, *BRAIN abnormalities

المؤلفون: Simoncini, C., Torri, S., Montano, V., Chico, L., Gruosso, F., Tuttolomondo, A., Pinto, A., Simonetta, I., Cianci, V., Salviati, A., Vicenzi, V., Marchi, G., Girelli, D., Concolino, D., Sestito, S., Zedde, M., Siciliano, G., Mancuso, Michelangelo

المصدر: Journal of Neurology; 2020, Vol. 267 Issue 12, p3741-3752, 12p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, OXIDATIVE stress, BIOMARKERS, LYSOSOMAL storage diseases, DISEASE progression, GLYCOGEN storage disease type II, MULTIPLE system atrophy

المؤلفون: Autti, Taina H.¹ taina.autti@hus.fi, Hämäläinen, Janne¹, Mannerkoski, Minna¹, van Leemput, Koen¹, Åberg, Laura E.²

المصدر: Journal of Neurology. Aug2008, Vol. 255 Issue 8, p1226-1230. 5p. 2 Black and White Photographs.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MAGNETIC resonance imaging, *MEDICAL imaging systems, *BRAIN, *PATIENTS, *STATISTICAL hypothesis testing

المؤلفون: Burlina, Alessandro P.¹, Manara, Renzo², Caillaud, Catherine³, Laissy, Jean-Pierre⁴, Severino, Mariasavina², Klein, Isabelle⁴, Burlina, Alberto⁵, Lidove, Olivier⁶ olivier.lidove@bch.aphp.fr

المصدر: Journal of Neurology. May2008, Vol. 255 Issue 5, p738-744. 7p. 2 Black and White Photographs, 1 Diagram, 2 Charts.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ISCHEMIA, *THALAMUS, *CEREBROVASCULAR disease, *HYPERTROPHIC cardiomyopathy, *NEUROLOGY