المؤلفون: Hoda Safari Yazd, Sina Feizbakhsh Bazargani, Christine A. Vanbeek, Kelli King-Morris, Coy Heldermon, Mark S. Segal, Richard Yost, William L. Clapp, Timothy J. Garrett

المصدر: Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 22, Iss, Pp 71-78 (2021)
Journal of Mass Spectrometry and Advances in the Clinical Lab

مصطلحات موضوعية: medicine.medical_specialty, Pathology, CAN, Acetonitrile, MS/MS, Tandem Mass Spectrometry, OCT, Optimal Cutting Temperature, CDH, Cerebrodihexoside, LC/MS, Liquid Chromatography-Mass Spectrometry, UHPLC-HRMS, Ultra-High Pressure Liquid Chromatography-High-Resolution Mass Spectrometry, Clinical Biochemistry, Globotriaosylceramide, Cnvs, Copy Number Variants, Microbiology, Special issue on Lipidomics, chemistry.chemical_compound, ERT, Enzyme Replacement Therapy, Liquid chromatography–mass spectrometry, Ga2, Galabiosylceramide, Biopsy, Lipidomics, Medical technology, medicine, R855-855.5, GLA, Glactosidase Alpha, SRM, Selected Reaction Monitoring, Spectroscopy, EIC, Extracted Ion Chromatogram, ND, Not Detected, Kidney, Clinical pathology, medicine.diagnostic_test, business.industry, Gb3, Globotriaosylceramide, SECIM, Southeast Center for Integrated Metabolomics, medicine.disease, Fabry disease, Chcl3, Chloroform, α-GAL A, α-Galactosidase A, Lyso-Gb3, Globotriaosylsphingosine, Medical Laboratory Technology, medicine.anatomical_structure, chemistry, IPA, 2-Propanol, Renal biopsy, Meoh, Methanol, business, LSD, Lysosomal Storage Disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc601d022917c183c0e3e9b796fc894b
https://doi.org/10.1016/j.jmsacl.2021.11.004

المؤلفون: Françoise Hullin-Matsuda, Isabelle Delton, Céline Luquain-Costaz, Maxence Rabia

المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), French Ministery of educationInstitut National de la Sante et de la Recherche Medicale (Inserm)European CommissionSFD (Societe Francophone du Diabete)AE 2016VML (Vaincre les Maladies Lysosomales)AO2018-6

المصدر: Biochimie
Biochimie, Elsevier, 2020, 179, pp.247-256. ⟨10.1016/j.biochi.2020.10.018⟩

مصطلحات موضوعية: 0301 basic medicine, COVID-19, coronavirus disease-19, viruses, [SDV]Life Sciences [q-bio], CoV, coronavirus, MERS, Middle East Respiratory Syndrome, Endocytic cycle, CAD, cationic amphiphilic drug, MVE, multivesicular endosome, medicine.disease_cause, Biochemistry, Homeostasis, BMP, bis(monoacylglycero)phosphate [also known as lysobisphosphatidic acid (LBPA)], LE/Lys, late endosome/lysosome, Late endosome, ComputingMilieux_MISCELLANEOUS, Coronavirus, Chemistry, ILV, intraluminal vesicle, MCS, membrane contact sites, General Medicine, Endocytosis, 3. Good health, Cell biology, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Monoglycerides, NPC, Niemann Pick type C, OSBP, oxysterol binding protein, extracellular vesicles, bis(monoacylglycero)phosphate, VSV, vesicular stomatitis virus, Endosome, CME, clathrin-mediated endocytosis, ACE2, angiotensin-converting enzyme 2, Article, 03 medical and health sciences, ESCRT, endosomal sorting complexes required for transport, oxysterol-binding protein (OSBP)-related proteins ORP, diC22:6-BMP, di-docosahexaenoyl BMP, medicine, Humans, SARS, severe acute respiratory syndrome, Niemann Pick type C disease NPC, OSBP, Unsaturated fatty acid, LSD, lysosomal storage disorder/disease, Host Microbial Interactions, 030102 biochemistry & molecular biology, SARS-CoV-2, cholesterol, ORP, OSBP-related protein, 030104 developmental biology, TMPRSS2, transmembrane serine protease 2, Lysophospholipids, NPC1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a68ea4cecc161cbc74e8d28bfc42a8
https://hal-univ-lyon1.archives-ouvertes.fr/hal-03039396

المؤلفون: Motomichi Kosuga, Kumiko Yanagi, Yasuyuki Fukuhara, Torayuki Okuyama, Narutoshi Yamazaki, Ai Miura, Takanori Yamagata, Tadashi Kaname, Hitoshi Sakuraba, Tetsumin So

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100692-(2020)

مصطلحات موضوعية: Signal peptide, HS, heparan sulfate, I2S, iduronate 2-sulfatase, Case Report, LSD, lysosomal storage disorder, Biology, GAG, glycosaminoglycan, Mucopolysaccharidosis type II, ER, endoplasmic reticulum, Exon, Endocrinology, MPS II, mucopolysaccharidosis II, Splice variants, Complementary DNA, Genetics, Molecular Biology, Gene, lcsh:QH301-705.5, lcsh:R5-920, Alternative splicing, Intron, Nucleic acid sequence, Molecular biology, ERT, enzyme replacement therapy, c DNA analysis, lcsh:Biology (General), DS, dermatan sulfate, lcsh:Medicine (General), HSCT, hematopoietic stem cell therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ba4e524d1be60fa0f19975997cd35e
http://europepmc.org/articles/PMC7734304

المؤلفون: Frédéric Darios, Giovanni Stevanin

المساهمون: Gestionnaire, Hal Sorbonne Université, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Molecular Biology
Journal of Molecular Biology, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩
Journal of Molecular Biology, Elsevier, 2020, 432 (8), pp.2714-2734. ⟨10.1016/j.jmb.2020.02.033⟩

مصطلحات موضوعية: autophagy, Endosome, [SDV]Life Sciences [q-bio], CLN, neuronal ceroid lipofuscinose, Lysosomal storage disorders, LSD, lysosomal storage disorder, mTOR, mammalian target of rapamycin, SCA7, spinocerebellar ataxia type 7, Article, 03 medical and health sciences, 0302 clinical medicine, FTLD, frontotemporal lobar degeneration, Structural Biology, trafficking, Lysosome, medicine, Animals, Humans, lysosomal storage diseases, Molecular Biology, 030304 developmental biology, 0303 health sciences, HSP, hereditary spastic paraplegia, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Cell Death, business.industry, Neurodegeneration, Autophagy, NPC, Niemann–Pick type C, Autophagosomes, Neurodegenerative Diseases, ALS, amyotrophic lateral sclerosis, medicine.disease, neuronal death, 3. Good health, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Lysosomes, business, signaling, Neuroscience, Metabolic Networks and Pathways, 030217 neurology & neurosurgery, Function (biology), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd0dc781e108f6a4267705cba2ae315f
https://hal.sorbonne-universite.fr/hal-02617474/document

المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6
https://doi.org/10.1016/j.ymgmr.2015.06.002

المؤلفون: Kenji E. Orii, Shunji Tomatsu, Robert W. Mason, Yasuyuki Suzuki, Tadao Orii, Hiromasa Yabe, Shunichi Kato, Akemi Tanaka, Pravin Patel, Tsutomu Shimada, Toshiyuki Fukao

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 184-196 (2014)

مصطلحات موضوعية: LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Gastroenterology, 0302 clinical medicine, Endocrinology, MPS II, mucopolysaccharidosis II, immune system diseases, Growth impact, Stage (cooking), lcsh:QH301-705.5, 0303 health sciences, lcsh:R5-920, Hematopoietic stem cell, Hunter syndrome, Enzyme replacement therapy, 3. Good health, ECM, extracellular matrix, Natural history, ERT, enzyme replacement therapy, medicine.anatomical_structure, surgical procedures, operative, Hematopoietic stem cell therapy, medicine.symptom, lcsh:Medicine (General), medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, HS, heparan sulfate, I2S, iduronate 2-sulfatase, Short stature, 03 medical and health sciences, Internal medicine, Genetics, medicine, Heart valve, Molecular Biology, 030304 developmental biology, business.industry, Height, nutritional and metabolic diseases, medicine.disease, Surgery, The Lysosome, lcsh:Biology (General), Dysplasia, DS, dermatan sulfate, business, HSCT, hematopoietic stem cell therapy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b66133ecd54e208304edab4416b0dad
http://europepmc.org/articles/PMC4104387

المؤلفون: Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Kenji E. Orii, Yasuyuki Suzuki, Miho Maeda, Pravin Patel, Tadao Orii

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Longitudinal study, medicine.medical_specialty, Mucopolysaccharidosis II, Birth weight, HS, heparan sulfate, I2S, iduronate 2-sulfatase, Disease, GAG, glycosaminoglycan, Lysosomal storage disorders, Mucopolysaccaridosis type II, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, MPS II, mucopolysaccharidosis II, Internal medicine, Genetics, medicine, Growth charts, Molecular Biology, lcsh:QH301-705.5, LSD, Lysosomal storage disorder, 0303 health sciences, lcsh:R5-920, business.industry, SRT, substrate reduction therapy, 030305 genetics & heredity, Final height, nutritional and metabolic diseases, Hunter syndrome, medicine.disease, ECM, extracellular matrix, ERT, enzyme replacement therapy, Natural history, lcsh:Biology (General), DS, dermatan sulfate, business, Birth length, Height velocity, lcsh:Medicine (General), HSCT, hematopoietic stem cell therapy, 030217 neurology & neurosurgery, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::356b9c517e4085eb0585bef53140b231
http://www.sciencedirect.com/science/article/pii/S2214426913000037

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المؤلفون: Yazd HS; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Bazargani SF; Department of Chemistry, University of Florida, Gainesville, FL 32610, USA., Vanbeek CA; AmeriPath, Renal Pathology, Oklahoma City, OK 73114, USA., King-Morris K; Department of Medicine, University of Central Florida, Orlando, FL 32827, USA., Heldermon C; Department of Neurology, University of Florida, Gainesville, FL 32610, USA., Segal MS; Department of Medicine, Division of Nephrology, Hypertension & Renal Transplantation, University of Florida, Gainesville, FL 32610, USA., Clapp WL; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA., Garrett TJ; Department of Pathology, Immunology and Laboratory Medicine, University of Florida, Gainesville, FL 32610, USA.

المصدر: Journal of mass spectrometry and advances in the clinical lab [J Mass Spectrom Adv Clin Lab] 2021 Nov 26; Vol. 22, pp. 71-78. Date of Electronic Publication: 2021 Nov 26 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101776811 Publication Model: eCollection Cited Medium: Internet ISSN: 2667-145X (Electronic) Linking ISSN: 2667145X NLM ISO Abbreviation: J Mass Spectrom Adv Clin Lab Subsets: PubMed not MEDLINE