Works matching DE "LYSOSOMAL storage diseases"
Results: 2784
Deciphering metabolic shifts in Gaucher disease type 1: a multi-omics study.
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- Journal of Molecular Medicine, 2025, v. 103, n. 2, p. 187, doi. 10.1007/s00109-024-02512-x
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- Article
Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.941
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- Article
Caracterización demográfica, clínica, paraclínica y molecular de pacientes con enfermedad de Gaucher tipo 1 en el Suroccidente Colombiano.
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- Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2024, v. 1, n. 36, p. 57, doi. 10.47499/revistaaccb.v1i36.308
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- Article
Fabry disease, do we think enough about this multisystemic disorder? -- A presentation of three cases in a Serbian family.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2012, v. 69, n. 7, p. 620, doi. 10.2298/VSP1207620S
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- Article
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
Anesthesia for Fucosidosis.
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- Pediatric Anesthesia, 2007, v. 17, n. 10, p. 994, doi. 10.1111/j.1460-9592.2007.02269.x
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- Article
Sedation for children with metachromatic leukodystrophy undergoing MRI.
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- Pediatric Anesthesia, 2007, v. 17, n. 1, p. 64, doi. 10.1111/j.1460-9592.2006.02002.x
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- Article
Simple nutrients bypass the requirement for HLH-30 in coupling lysosomal nutrient sensing to survival.
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- PLoS Biology, 2019, v. 17, n. 5, p. 1, doi. 10.1371/journal.pbio.3000245
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- Article
Gaucher disease in Mexico. Epidemiologic overview.
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- Acta Pediatrica de Mexico, 2011, v. 32, n. 5, p. 277
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- Article
Insomnio y anormalidades conductuales como manifestaciones iniciales en una paciente con síndrome de Sanilippo.
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- Acta Pediatrica de Mexico, 2011, v. 32, n. 1, p. 15
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- Publication type:
- Article
Deficiencia de lipasa ácida lisosomal. Reporte de dos casos.
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- Revista Mexicana de Pediatria, 2016, v. 83, n. 2, p. 49
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- Article
Enfoque simplificado para el diagnóstico de enfermedades lisosomales en niños.
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- Revista Mexicana de Pediatria, 2014, v. 81, n. 4, p. 143
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- Article
Clinical Dermatology.
- Published in:
- Current Medical Literature: Dermatology, 2010, v. 15, n. 4, p. 105
- Publication type:
- Article
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases.
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- Molecular & Cellular Biochemistry, 2014, v. 385, n. 1/2, p. 1, doi. 10.1007/s11010-013-1806-4
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- Article
Erratum to: LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases.
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- 2014
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- Publication type:
- Correction Notice
Effects of heat stress on muscle mass and the expression levels of heat shock proteins and lysosomal cathepsin L in soleus muscle of young and aged mice.
- Published in:
- Molecular & Cellular Biochemistry, 2012, v. 369, n. 1/2, p. 45, doi. 10.1007/s11010-012-1367-y
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- Publication type:
- Article
The dependence of enhanced lysosomal activity on the cellular aging of bovine aortic endothelial cells.
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- Molecular & Cellular Biochemistry, 2010, v. 340, n. 1/2, p. 175, doi. 10.1007/s11010-010-0415-8
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- Publication type:
- Article
TERT enhances the survival rate of human fibroblasts under endoplasmic reticulum, Golgi apparatus, and lysosomal stresses.
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- Biotechnology Letters, 2018, v. 40, n. 6, p. 915, doi. 10.1007/s10529-018-2544-1
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- Article
The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness.
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- Heart & Vessels, 2008, v. 23, n. 2, p. 108, doi. 10.1007/s00380-007-1013-x
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- Publication type:
- Article
A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis--Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 185, doi. 10.2350/07-03-0242.1
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- Article
Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 453, doi. 10.1007/s10024-005-0025-8
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- Article
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.
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- 2016
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- Publication type:
- journal article
Retinal degeneration in mucopolysaccharidose type II.
- Published in:
- 2013
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- Publication type:
- Letter
Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2011, v. 249, n. 11, p. 1689, doi. 10.1007/s00417-011-1726-5
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- Publication type:
- Article
Tracheobronchial stent insertions in the management of major airway obstruction in a patient with Hunter syndrome (type-II mucopolysaccharidosis).
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- 2002
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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
Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report.
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- Child's Nervous System, 2020, v. 36, n. 9, p. 2093, doi. 10.1007/s00381-020-04500-1
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- Publication type:
- Article
Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome.
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- Child's Nervous System, 2020, v. 36, n. 8, p. 1785, doi. 10.1007/s00381-020-04561-2
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- Publication type:
- Article
Surgical consideration in Hunter syndrome: a case of hydrocephalus and a case of epidural hematoma.
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- Child's Nervous System, 2019, v. 35, n. 5, p. 889, doi. 10.1007/s00381-018-3998-0
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- Publication type:
- Article
Pathologic endothelial response and impaired function of circulating angiogenic cells in patients with Fabry disease.
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- Basic Research in Cardiology, 2013, v. 108, n. 1, p. 1, doi. 10.1007/s00395-012-0311-3
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- 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
Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin.
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- Acta Neuropathologica, 2007, v. 113, n. 2, p. 163, doi. 10.1007/s00401-006-0148-7
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- Publication type:
- Article
A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration.
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- Acta Neuropathologica, 2006, v. 112, n. 3, p. 267, doi. 10.1007/s00401-006-0092-6
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- Publication type:
- Article
Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.
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- Acta Neuropathologica, 2006, v. 111, n. 2, p. 178, doi. 10.1007/s00401-005-0026-8
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- Publication type:
- Article
A lysosomal storage disease of Romney sheep that resembles human type 3 G<sub>M1</sub> gangliosidosis.
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- Acta Neuropathologica, 2001, v. 101, n. 3, p. 225, doi. 10.1007/s004010000267
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- Publication type:
- Article
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
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- Pediatric Neurosurgery, 2015, v. 50, n. 1, p. 26, doi. 10.1159/000371658
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- Publication type:
- Article
Bilateral Carpal Tunnel Syndrome in Two Children: Common Manifestation of an Uncommon Disease.
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- Pediatric Neurosurgery, 2014, v. 49, n. 5, p. 300, doi. 10.1159/000365762
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- Publication type:
- Article
Neurosurgical Interventions in Children with Maroteaux-Lamy Syndrome.
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- Pediatric Neurosurgery, 2001, v. 35, n. 1, p. 35, doi. 10.1159/000050383
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- Publication type:
- Article
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
- Published in:
- Nature, 2000, v. 406, n. 6798, p. 906, doi. 10.1038/35022604
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- Publication type:
- Article
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.
- Published in:
- Nature, 2000, v. 406, n. 6798, p. 902, doi. 10.1038/35022595
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- Publication type:
- Article
Activity of lysosomal enzymes in the bile and serum of mice with intrahepatic cholestasis.
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- Bulletin of Experimental Biology & Medicine, 2008, v. 145, n. 5, p. 560, doi. 10.1007/s10517-008-0147-x
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- Publication type:
- Article
A robust computational pipeline for model-based and data-driven phenotype clustering.
- Published in:
- Bioinformatics, 2021, v. 37, n. 9, p. 1269, doi. 10.1093/bioinformatics/btaa948
- Publication type:
- Article
Atypical Presentation of Danon Disease.
- Published in:
- Annals of Clinical Cardiology, 2024, v. 6, n. 2, p. 95, doi. 10.4103/ACCJ.ACCJ_16_24
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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
Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features.
- Published in:
- 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