المؤلفون: Abdullah Yeşilkaya, Ayşe Akhan, Ayşe Altun Gezgel

مصطلحات موضوعية: Cystinosis, Anesthesia management, Perioperative care, Lysosomal Storage Diseases

العلاقة: https://dx.doi.org/10.5281/zenodo.11244646Test

الإتاحة: https://doi.org/10.5281/zenodo.1124464710.5281/zenodo.11244646Test

المؤلفون: Abdullah Yeşilkaya, Ayşe Akhan, Ayşe Altun Gezgel

مصطلحات موضوعية: Cystinosis, Anesthesia management, Perioperative care, Lysosomal Storage Diseases

العلاقة: https://dx.doi.org/10.5281/zenodo.11244647Test

الإتاحة: https://doi.org/10.5281/zenodo.1124464610.5281/zenodo.11244647Test

المؤلفون: Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Heron, Benedicte, Piraud, Monique, Ausseil, Jerome, Zerimech, Farid, Gonzalez, Bruno, Marret, Stephane, Afonso, Carlos, Bekri, Soumeya

المساهمون: CHU Lille, Institut Pasteur de Lille, Université de Lille, Impact de l'environnement chimique sur la santé humaine - ULR 4483 IMPECS

مصطلحات موضوعية: Mucopolysaccharidosis type III, Inborn errors of metabolism, Lysosomal storage diseases, Ion mobility, Mass spectrometry, Metabolomics

وصف الملف: application/rdf+xml; charset=utf-8; application/octet-stream

العلاقة: Journal of Translational Medicine; J Transl Med; http://hdl.handle.net/20.500.12210/59679Test

الإتاحة: https://doi.org/20.500.12210/59679Test
https://hdl.handle.net/20.500.12210/59679Test

المؤلفون: Nato D. Vashakmadze, Nataliya V. Zhurkova, Н. Д. Вашакмадзе, Н. В. Журкова

المصدر: Current Pediatrics; Том 22, № 6 (2023); 572-576 ; Вопросы современной педиатрии; Том 22, № 6 (2023); 572-576 ; 1682-5535 ; 1682-5527

مصطلحات موضوعية: лизосомные болезни накопления, types A and B, acid sphingomyelinase deficiency, lysosomal storage diseases, дефицит кислой сфингомиелиназы

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.15690/vsp.v22i6.2702Test
https://doi.org/10.1016/j.ymgme.2016.12.008Test
https://doi.org/10.3389/fped.2023.1113422Test
https://doi.org/10.1016/j.ymgme.2020.06.008Test
https://doi.org/10.1111/j.1365-2559.2006.02355.xTest
https://doi.org/10.1590/S1806-37562017000000062Test
https://doi.org/10.4081/monaldi.2011.211Test
https://doi.org/10.1007/s10545-006-0226-yTest
https://doi.org/10.1016/0016-5085Test(91)90233-b
https://doi.org/10.1136/thx.38.11.873Test

المؤلفون: Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Lysosomal storage diseases, Fabry disease, Migalastat, Oral chaperone therapy, Medicine

العلاقة: https://doi.org/10.1186/s13023-024-03028-wTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/6eb1ebc51ef24c4782f51c05363cee95Test

الإتاحة: https://doi.org/10.1186/s13023-024-03028-wTest
https://doaj.org/article/6eb1ebc51ef24c4782f51c05363cee95Test

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, vol 271, iss 4

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

وصف الملف: application/pdf

العلاقة: qt4639m33c; https://escholarship.org/uc/item/4639m33cTest

الإتاحة: https://escholarship.org/uc/item/4639m33cTest

المؤلفون: Gopen Kumar Kundu, Md. Shamim Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan

مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Lysosomal Calcium Signaling in Physiology and Pathology, Neuronal Ceroid Lipofuscinoses, Lysosomal Storage Disorders, Lysosomal Storage Diseases, Lysosomal Calcium Signaling, Neuronal ceroid lipofuscinosis, Batten disease, Pathology, Magnetic resonance imaging, Neuroscience, Pediatrics, Disease, Psychology, FOS Psychology, Radiology

العلاقة: https://dx.doi.org/10.60692/15c2w-jfa96Test

الإتاحة: https://doi.org/10.60692/1vqyv-kmx2510.60692/15c2w-jfa96Test

المؤلفون: Gopen Kumar Kundu, Md. Shamim Akhter, Sanjida Ahmed, Bishnu Pada Dey, Shah Noor Hassan

مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Mechanisms of Intracellular Membrane Trafficking, Cell Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Lysosomal Calcium Signaling in Physiology and Pathology, Neuronal Ceroid Lipofuscinoses, Lysosomal Storage Disorders, Lysosomal Storage Diseases, Lysosomal Calcium Signaling, Neuronal ceroid lipofuscinosis, Batten disease, Pathology, Magnetic resonance imaging, Neuroscience, Pediatrics, Disease, Psychology, FOS Psychology, Radiology

العلاقة: https://dx.doi.org/10.60692/1vqyv-kmx25Test

الإتاحة: https://doi.org/10.60692/15c2w-jfa9610.60692/1vqyv-kmx25Test

المؤلفون: Tran, My Lan, Borie-Guichot, Marc, Garcia, Virginie, Oukhrib, Abdelouahd, Génisson, Yves, Levade, Thierry, Ballereau, Stéphanie, Turrin, Cédric-Olivier, Dehoux, Cécile

المساهمون: Synthèse et Physico-Chimie de Molécules d'Intérêt Biologique (SPCMIB), Institut de Chimie de Toulouse (ICT), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Laboratoire de chimie de coordination (LCC), Centre de Recherches en Cancérologie de Toulouse (CRCT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Association "Vaincre les Maladies Lysosomales", Université Paul Sabatier

المصدر: ISSN: 0947-6539.

مصطلحات موضوعية: Dendrimers, Copper-free click reaction, Inhibitors, Lysosomal storage diseases, Pharmacological chaperones, [CHIM.THER]Chemical Sciences/Medicinal Chemistry

العلاقة: hal-04175496; https://hal.science/hal-04175496Test; https://hal.science/hal-04175496/documentTest; https://hal.science/hal-04175496/file/Tran,%20Phosphorus%20dendrimers%20for%20metal-free,%202023.pdfTest

الإتاحة: https://doi.org/10.1002/chem.202301210Test
https://hal.science/hal-04175496Test
https://hal.science/hal-04175496/documentTest
https://hal.science/hal-04175496/file/Tran,%20Phosphorus%20dendrimers%20for%20metal-free,%202023.pdfTest

المؤلفون: Merav Antman-Passig, Zvi Yaari, Dana Goerzen, Rooshi Parikh, Savannah Chatman, Lauren E. Komer, Chen Chen, Emma Grabarnik, Mickael Mathieu, Adriana Haimovitz-Friedman, Daniel A. Heller

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Neuroscience, Pharmacology, Sociology, Marine Biology, Cancer, Science Policy, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, lysosomal storage disorders, effective treatment strategies, lysosomal storage diseases, intracranial lipid content, abnormal sphingomyelin accumulation, common neurodegenerative diseases, neurodegenerative diseases, lipid accumulation, neurodegenerative pathologies, work indicates, vivo models, neurological decline, monitor abnormalities, infrared spectroscopy, infrared emission, endolysosomal lumen

العلاقة: https://figshare.com/articles/journal_contribution/Nanoreporter_Identifies_Lysosomal_Storage_Disease_Lipid_Accumulation_Intracranially/24451443Test

الإتاحة: https://doi.org/10.1021/acs.nanolett.3c02502.s001Test
https://figshare.com/articles/journal_contribution/Nanoreporter_Identifies_Lysosomal_Storage_Disease_Lipid_Accumulation_Intracranially/24451443Test