Works matching DE "LYSOSOMAL storage diseases"
Results: 2821
Research highlights.
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- Nature Structural & Molecular Biology, 2008, v. 15, n. 10, p. 1006, doi. 10.1038/nsmb1008-1006
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- Article
Neonatal hyperlipidemia with pancreatitis: Novel gene mutation of lipoprotein lipase.
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- Journal of Postgraduate Medicine, 2018, v. 64, n. 4, p. 247, doi. 10.4103/jpgm.JPGM_731_17
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- Article
Enzyme replacement therapy in India: Lessons and insights.
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- 2018
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- Publication type:
- Editorial
Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity.
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- PLoS Biology, 2016, v. 14, n. 12, p. 1, doi. 10.1371/journal.pbio.1002583
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- Article
Phosphorus Dendrimers for Metal‐Free Ligation: Design of Multivalent Pharmacological Chaperones against Gaucher Disease.
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- Chemistry - A European Journal, 2023, v. 29, n. 53, p. 1, doi. 10.1002/chem.202301210
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- Article
Potent and Selective Cell‐Active Iminosugar Inhibitors of Human α‐N‐Acetylgalactosaminidase (α‐NAGAL).
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- Chemistry - A European Journal, 2023, v. 29, n. 44, p. 1, doi. 10.1002/chem.202300982
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- Article
Lysosomal Targeting of β‐Cyclodextrin.
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- Chemistry - A European Journal, 2023, v. 29, n. 4, p. 1, doi. 10.1002/chem.202203252
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- Article
Cathepsin D gene expression outlines the areas of physiological cell death during embryonic development.
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- Developmental Dynamics, 2007, v. 236, n. 3, p. 880
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- Publication type:
- Article
An update on multiplexed mass spectrometry‐based lysosomal storage disease diagnosis.
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- Mass Spectrometry Reviews, 2024, v. 43, n. 5, p. 1135, doi. 10.1002/mas.21864
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- Article
EXPANDED NEWBORN SCREENING BY MASS SPECTROMETRY: NEW TESTS, FUTURE PERSPECTIVES.
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- Mass Spectrometry Reviews, 2016, v. 35, n. 1, p. 71, doi. 10.1002/mas.21463
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- Article
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)
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- Human Mutation, 2003, v. 22, n. 3, p. 258
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- Publication type:
- Article
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf
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- Human Mutation, 2003, v. 22, n. 3, p. 258
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- Publication type:
- Article
A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina.
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- 2019
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- Publication type:
- journal article
A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin.
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- Calcified Tissue International, 2015, v. 96, n. 5, p. 373, doi. 10.1007/s00223-015-9963-y
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- Publication type:
- Article
Gaucher Disease and Bone Manifestations.
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- Calcified Tissue International, 2014, v. 95, n. 6, p. 477, doi. 10.1007/s00223-014-9923-y
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- Publication type:
- Article
Kidney transplantation in patients with Fabry disease.
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- Transplant International, 2009, v. 22, n. 4, p. 475, doi. 10.1111/j.1432-2277.2008.00824.x
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- Publication type:
- Article
H<sub>2</sub>O<sub>2</sub>-mediated modulation of cytosolic signaling and organelle function in rat hippocampus.
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- Pflügers Archiv: European Journal of Physiology, 2009, v. 458, n. 5, p. 937, doi. 10.1007/s00424-009-0672-0
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- Publication type:
- Article
The two-pore channel TPCN2 mediates NAADP-dependent Ca<sup>2+</sup>-release from lysosomal stores.
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- Pflügers Archiv: European Journal of Physiology, 2009, v. 458, n. 5, p. 891, doi. 10.1007/s00424-009-0690-y
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- Publication type:
- Article
Cation channel activity of mucolipin-1: the effect of calcium.
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- Pflügers Archiv: European Journal of Physiology, 2005, v. 451, n. 1, p. 304, doi. 10.1007/s00424-005-1448-9
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- Publication type:
- Article
Cerebellar white matter involvement in Salla disease.
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- Neuroradiology, 2004, v. 46, n. 7, p. 587, doi. 10.1007/s00234-004-1166-6
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- Publication type:
- Article
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.
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- 2016
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- Publication type:
- journal article
Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Prenatal diagnosis of Pompe disease by electron microscopy.
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- Archives of Gynecology & Obstetrics, 2005, v. 271, n. 3, p. 260, doi. 10.1007/s00404-004-0620-3
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- Publication type:
- Article
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
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- Acta Neuropathologica, 2023, v. 146, n. 2, p. 337, doi. 10.1007/s00401-023-02582-0
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- Publication type:
- Article
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 511, doi. 10.1007/s00401-015-1475-3
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- Publication type:
- Article
Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease.
- Published in:
- 2013
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- Publication type:
- Letter
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
- Published in:
- 2009
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- Publication type:
- Report
Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue.
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- Acta Neuropathologica, 2008, v. 115, n. 5, p. 547, doi. 10.1007/s00401-007-0325-3
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- Publication type:
- Article
Lipids in health and disease.
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- Nature, 2014, v. 510, n. 7503, p. 47, doi. 10.1038/510047a
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- Publication type:
- Article
Sphingolipid lysosomal storage disorders.
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- Nature, 2014, v. 510, n. 7503, p. 68, doi. 10.1038/nature13476
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- Publication type:
- Article
Niemann-Pick Disease With Bilateral Adrenal Mass.
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- JCEM Case Reports, 2023, v. 1, n. 6, p. 1, doi. 10.1210/jcemcr/luad152
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- Publication type:
- Article
An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation.
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- Caspian Journal of Neurological Sciences, 2023, v. 9, n. 1, p. 50, doi. 10.32598/CJNS.9.32.232.5
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- Publication type:
- Article
DETECTION OF CD4+ T-LYMFOCYTE ADAPTIVE IMMUNITY CELL EXPRESSION IN MICE INFECTED WITH Salmonella typhimurium.
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- Jurnal Biosains Pascasarjana, 2022, v. 24, p. 39, doi. 10.20473/jbp.v24i1SP.2022.39-43
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- Publication type:
- Article
A case of type II fucosidosisdiagnosed with neuroradiological and dysmorphological findings.
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- Current Journal of Neurology, 2023, v. 22, n. 4, p. 265, doi. 10.18502/cjn.v22i4.14534
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- Publication type:
- Article
What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?
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- Turkish Archives of Otorhinolaryngology, 2023, v. 61, n. 2, p. 52, doi. 10.4274/tao.2023.2023-3-10
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- Publication type:
- Article
Cell-intrinsic lysosomal lipolysis is essential for alternative activation of macrophages.
- Published in:
- Nature Immunology, 2014, v. 15, n. 9, p. 846, doi. 10.1038/ni.2956
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- Publication type:
- Article
Serine protease inhibitor 2A is a protective factor for memory T cell development.
- Published in:
- Nature Immunology, 2004, v. 5, n. 9, p. 919, doi. 10.1038/ni1107
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- Publication type:
- Article
Arsenic induces apoptosis by the lysosomal-mitochondrial pathway in INS-1 cells.
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- Environmental Toxicology, 2016, v. 31, n. 2, p. 133, doi. 10.1002/tox.22027
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- Publication type:
- Article
Urinary enzyme excretion as a parameter for detection of acute renal damage mediated by N-(3,5-dichlorophenyl)succinimide (NDPS) in fischer 344 rats.
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- Journal of Applied Toxicology, 1994, v. 14, n. 4, p. 281, doi. 10.1002/jat.2550140407
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- Publication type:
- Article
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features.
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- Turkish Journal of Medical Sciences, 2020, v. 50, n. 4, p. 1048, doi. 10.3906/sag-1908-70
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- Publication type:
- Article
Adult Psychiatric Diagnosis of Niemann-pick Disease Type C (Case Study).
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- European Psychiatry, 2015, v. 30, p. 991, doi. 10.1016/S0924-9338(15)30778-1
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- Publication type:
- Article
On the move, lysosomal CAX drives Ca2+ transport and motility.
- Published in:
- Journal of Cell Biology, 2016, v. 212, n. 7, p. 755, doi. 10.1083/jcb.201603037
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- Publication type:
- Article
Rosa Puertollano: The importance of recycling cellular trash.
- Published in:
- 2015
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- Publication type:
- Interview
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction.
- Published in:
- Journal of Cell Biology, 2012, v. 199, n. 5, p. 723, doi. 10.1083/jcb.201208152
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- Publication type:
- Article
Presenilins: A novel link between calcium signaling and lysosomal intracellular function?
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- Journal of Cell Biology, 2012, v. 198, n. 1, p. 7, doi. 10.1083/jcb.201206003
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- Publication type:
- Article
Stories of spinster with various faces: from courtship rejection to tumor metastasis rejection.
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- Journal of Neurogenetics, 2019, v. 33, n. 2, p. 90, doi. 10.1080/01677063.2019.1586897
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- Publication type:
- Article
Genetic engineering of IgG-glucuronidase fusion proteins.
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- Journal of Drug Targeting, 2010, v. 18, n. 3, p. 205, doi. 10.3109/10611860903353362
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- Publication type:
- Article
The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders.
- Published in:
- Antibiotics (2079-6382), 2023, v. 12, n. 1, p. 122, doi. 10.3390/antibiotics12010122
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- Publication type:
- Article
Upregulating β-hexosaminidase activity in rodents prevents α-synuclein lipid associations and protects dopaminergic neurons from α-synuclein-mediated neurotoxicity.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-01004-6
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- Publication type:
- Article
Relationship between liver diseases and autophagy.
- Published in:
- Journal of Clinical Hepatology / Linchuang Gandanbing Zazhi, 2014, v. 30, n. 2, p. 186, doi. 10.3969/j.issn.1001-5256.2014.02.022
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- Publication type:
- Article