Keywords: اختلال ذخیره سازی لیزوزومی; ISMMS; Icahn School of Medicine at Mount Sinai; Parkinson's disease; Fabry disease; Lysosomal storage disorder; Alpha-galactosidase A; GLA;
مقالات ISI اختلال ذخیره سازی لیزوزومی (ترجمه نشده)
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Keywords: اختلال ذخیره سازی لیزوزومی; Multiple sulfatase deficiency; Leukodystrophy; Mucopolysaccharidoses; Consensus; Therapy; Care; Outcomes; Prevention; ACC; augmentative and alternative communication; AEP; auditory evoked potential; BiPAP; bilevel positive airway pressure; CPAP; continuou
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosomal storage disorder; lysosomal storage disease; lysosomal enzyme disorder; newborn screening;
Keywords: اختلال ذخیره سازی لیزوزومی; Fucosidosis; Lysosomal storage disorder; Chronic rhinosinusitis;
Keywords: اختلال ذخیره سازی لیزوزومی; CK; Creatine kinase; DBS; Dried blood spot; GAA; Alpha-glucosidase; GAG; Glycosaminoglycan; GBA; Beta-glucosidase; IDUA; Alpha-L-iduronidase; IOPD; Infantile-onset Pompe disease; LOPD; Late-onset Pompe disease; LSD; Lysosomal storage disorder; MPS; Mucopo
Keywords: اختلال ذخیره سازی لیزوزومی; LSD; Newborn screening; Lysosomal storage disorder; Fabry disease; Pompe disease; Gaucher disease; Krabbe disease; Mucopolysaccharidosis type I; Niemann-Pick A/B;
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosomal storage disorder; Immune abnormality; Autoimmunity;
Keywords: اختلال ذخیره سازی لیزوزومی; LSD; lysosomal storage disorder; DBS; dried blood spot; GAA; acid α-glucosidase; GLA; acid α-galactosidase; GBA; acid β-glucocerebrosidase; ASM; acid sphingomyelinase; GALC; galactocerebrosidase; EDTA; ethylenediaminetetraacetic acid; S&S; Schleicher &
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosomal storage disorder; MPS IIIA; Mouse; Cerebrospinal fluid; Enzyme replacement therapy; Osmotic pump;
Keywords: اختلال ذخیره سازی لیزوزومی; DBS; Dried blood spot; GAA; Acid α-glucosidase; GBA; Acid β-d-glucosidase; GLA; Acid α-galactosidase; IDUA; Acid α-l-iduronidase; LSD; Lysosomal storage disorder; MPS I; Mucopolysaccharidosis type I; MSPHL; Missouri State Public Health Laboratory; NBS
Keywords: اختلال ذخیره سازی لیزوزومی; ERT; enzyme replacement therapy; CLN1; ceroid lipofuscinosis, neuronal-1; CLN2; ceroid lipofuscinosis, neuronal-2; LSD; lysosomal storage disorder; MU-6S-Palm-βGlc; 4-methylumbelliferyl-6-thiopalmitoyl-β-d-glucoside; NCL; neuronal ceroid lipofuscinosis;
Keywords: اختلال ذخیره سازی لیزوزومی; Free sialic acid; Lysosomal storage disorder; Neurodegenerative disorders; Newborn screening; SLC17A5 genecDNA, DNA complementary to RNA; CHX, cycloheximide; DBS, dried blood spots; ESI-MS/MS, electro spray ionization tandem mass spectrometry; ISSD, infan
Keywords: اختلال ذخیره سازی لیزوزومی; DBS; dried blood spot; GM1; gangliosidosis M1; LSDs; lysosomal storage disorders; MLD; metachromatic leukodystrophy; MPS; mucopolysaccharidosis; 4-MU; 4-methylumbelliferone; 4-MU-C3; 4-methylumbelliferyl-β-D-N,Nâ²,Nâ³-triacetylchitotrioside; 4-MU-dC2;
Keywords: اختلال ذخیره سازی لیزوزومی; lysosomal storage disorder; splenomegaly; glucocerebrosidase; enzyme replacement therapy; thrombocytopeniaLSD, lysosomal storage disorders; GD, Gaucher disease; GD1, Gaucher disease type 1; GD2, Gaucher disease type 2; GD3, Gaucher disease type 3; GBA, ac
Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation
Keywords: اختلال ذخیره سازی لیزوزومی; Mucopolysaccharidosis IVA; Morquio syndrome; GALNS; Lysosomal storage disorder; Mutation;
Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Keywords: اختلال ذخیره سازی لیزوزومی; MPS IVA; Morquio A; Lysosomal storage disorder; Urinary GAGs; Elosulfase alfa; Quality of life;
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients
Keywords: اختلال ذخیره سازی لیزوزومی; NP-C; Niemann-Pick type C; LSD; lysosomal storage disorder; CNS; central nervous system; 7-KC; 7-ketocholesterol; GC/MS; gas chromatography/mass spectrometry; LC/MS-MS; liquid chromatography/tandem mass spectrometry; LDL; low density lipoprotein; LE; late
Polyrotaxane-based systemic delivery of β-cyclodextrins for potentiating therapeutic efficacy in a mouse model of Niemann-Pick type C disease
Keywords: اختلال ذخیره سازی لیزوزومی; Polyrotaxane; Cyclodextrin; Cholesterol; Niemann-Pick type C disease; Lysosomal storage disorder;
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin
Keywords: اختلال ذخیره سازی لیزوزومی; Niemann-Pick type C; Lysosomal storage disorder; Neurodegenerative disease; Cholesterol; Cyclodextrin;
Case ReportAspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan
Keywords: اختلال ذخیره سازی لیزوزومی; Aspartylglucosaminuria (AGU); Aspartylglucosaminidase (AGA); Lysosomal storage disorder; Developmental regression; Exome sequencing; Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS);
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity
Keywords: اختلال ذخیره سازی لیزوزومی; Mucopolysaccharidosis type I; Glycosaminoglycan; Cathepsin B; Lysosomal storage disorder; Heart dilatation;
Research PaperAxonal dystrophy in the brain of mice with Sanfilippo syndrome
Keywords: اختلال ذخیره سازی لیزوزومی; Spheroid; Neurodegenerative disease; Endosome; Lysosomal storage disorder; Synuclein; Amyloid; Tau;
AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease
Keywords: اختلال ذخیره سازی لیزوزومی; AAV; adeno-associated virus; CNS; central nervous system; DCN; deep cerebellar nuclei; GFAP; glial fibrillary acidic protein; Hex; β-N-acetylhexosaminidase; Iba1; ionized calcium-binding protein 1; ICV; intracerebroventricular; IL-1β; interleukin 1 beta
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Keywords: اختلال ذخیره سازی لیزوزومی; Neuronal ceroid lipofuscinosis; Laboratory diagnosis; Lysosomal storage disorder; Expert recommendations; Neurodegeneration; Genetic cause of epilepsy;
Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosome; Autophagy; Niemann-Pick type C disease; Endoplasmic reticulum; ER-phagy; Lysosomal storage disorder
MinireviewPathogenesis and treatment of spine disease in the mucopolysaccharidoses
Keywords: اختلال ذخیره سازی لیزوزومی; Mucopolysaccharidosis; Spine; Vertebra; Bone; Intervertebral disc; Animal models; Lysosomal storage disorder; Therapy;
Autophagy in the eye: Development, degeneration, and aging
Keywords: اختلال ذخیره سازی لیزوزومی; Autophagy; Retina; Chaperone mediated autophagy; Lysosomes; Mitophagy; Retinal ganglion cells; Retinal pigment epithelial cells; Photoreceptor; Glaucoma; Macular degeneration; Retinal dystrophies; Diabetic retinopathy; 3-MA; 3-methyl adenine; 8-OH DPAT; 8
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders
Keywords: اختلال ذخیره سازی لیزوزومی; Novel mutations; GM1 gangliosidosis; Sialidosis; Lysosomal storage disorder; GLB1; NEU1;
Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosomal storage disorder; Sanfilippo syndrome; MPS IIIA; Mouse; Cerebrospinal fluid; Enzyme replacement therapy;
Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosomal storage disorder; Vertebra; Long bones; Endochondral ossification; Chondrocyte differentiation; Glycosaminoglycan;
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5
Keywords: اختلال ذخیره سازی لیزوزومی; Neuronal ceroid lipofuscinosis; CLN5; Proteolytic processing; Lysosomal storage disorder;
Brain MRI findings in aspartylglucosaminuria
Keywords: اختلال ذخیره سازی لیزوزومی; Aspartylglucosaminuria; Lysosomal storage disorder; Inborn errors of metabolism; Magnetic resonance imaging; Intellectual disabilityMRI, magnetic resonance imaging; AGU, aspartylglucosaminuria; T, Tesla; AGA, aspartylglucosaminidase; SI, signal intensity;
Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI)
Keywords: اختلال ذخیره سازی لیزوزومی; ARSB; arylsulfatase B isoform; AU; arbitrary units; DBS; dried blood spot; EA; enzyme activity; LSD; lysosomal storage disorder; MPS VI; mucopolysaccharidosis type VI; NBS; newborn screening; β-MU; 4-methylumbelliferone; β-MUS; 4-methylumbelliferone sul
Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease
Keywords: اختلال ذخیره سازی لیزوزومی; A; adult; AET; aerobic exercise training; AUC; area under the curve; CI-MPR; cation-independent mannose-6-phosphate receptor; CLEAR; coordinated lysosomal expression and regulation transcriptome; ERT; enzyme replacement therapy; FA; fatty acid; FG; fast-t
Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
Keywords: اختلال ذخیره سازی لیزوزومی; Genetic testing; Genotype–phenotype correlation; Hunter syndrome; Lysosomal storage disorder; Mucopolysaccharidosis type II
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry
Keywords: اختلال ذخیره سازی لیزوزومی; ACP; acid phosphatase; CRIM; cross-reactive immunologic material; DBS; dried blood spot; ECG; electrocardiogram; ERT; enzyme replacement therapy; GAA; acid alpha-glucosidase; IRB/EC; Institutional Review Board or Ethics Committee; MRI; magnetic resonance
A thermodynamic assay to test pharmacological chaperones for Fabry disease
Keywords: اختلال ذخیره سازی لیزوزومی; PC; pharmacological chaperones; FD; Fabry disease; AGAL; lysosomal alpha-galactosidase; DGJ; 1-deoxy-galactonojirimycin; CD; circular dichroism; Pharmacological chaperone; Lysosomal storage disorder; Urea-induced unfolding; Limited proteolysis; Cell lysat
Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA)
Keywords: اختلال ذخیره سازی لیزوزومی; GAD65/67; glutamic acid decarboxylase 65/67; GlcNS-UA; glucosamine-N-sulfate-uronic acid; INCL; infantile neuronal ceroid lipofuscinosis; LC-ESI-MS/MS; liquid chromatography-electrospray ionization tandem mass spectrometry; LSD; lysosomal storage diso
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations
Keywords: اختلال ذخیره سازی لیزوزومی; MPS IVA; Morquio A; Mucopolysaccharidosis type IVA; GALNS; Lysosomal storage disorder; Mutation;
Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I
Keywords: اختلال ذخیره سازی لیزوزومی; Mucopolysaccharidosis; Lysosomal storage disorder; Orthopedic; Therapy; Canine; Model;
The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects
Keywords: اختلال ذخیره سازی لیزوزومی; MPS; Morquio; GALNS; Lysosomal storage disorder; Endurance; Respiratory function;
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Keywords: اختلال ذخیره سازی لیزوزومی; Mucopolysaccharidosis VI; MPS VI; Lysosomal storage disorder; Galsulfase; Enzyme replacement therapy; Pediatric;
Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels
Keywords: اختلال ذخیره سازی لیزوزومی; C6S; Chondroitin-6-sulfate; CDC; Centers for Disease Control and Prevention; Cr; Creatinine; DMB; dimethylmethylene blue; DMSO; dimethylsulfoxide; GAGs; Glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfate sufatase; IMO; International Morquio Organi
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosome; Neurodegeneration; Lysosomal storage disorder; Mannose 6-phosphate; CSPα; Progranulin
Use of model organisms for the study of neuronal ceroid lipofuscinosis
Keywords: اختلال ذخیره سازی لیزوزومی; Batten disease; Lysosomal storage disorder; Animal model; Disease mechanism; Pathology; Experimental therapy
Lysosomal storage disorder 4Â +Â 1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders
Keywords: اختلال ذخیره سازی لیزوزومی; LSD; lysosomal storage disorder; DBS; dried blood spot; DMA; daily mean activity; ESI-MS/MS; electrospray ionization-tandem mass spectrometry; ABG; acid β-glucocerebrosidase; ASM; acid sphingomyelinase; GAA; acid α-glucosidase; GALC; galactocerebrosidas
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease
Keywords: اختلال ذخیره سازی لیزوزومی; Pompe disease; Lysosomal storage disorder; α-Glucosidase; Fibroblasts; Muscle; Glycogenosis;
A new lysosomal storage disorder resembling Morquio syndrome in sibs
Keywords: اختلال ذخیره سازی لیزوزومی; Morquio syndrome; Lysosomal storage disorder;
The role of saposin C in Gaucher disease
Keywords: اختلال ذخیره سازی لیزوزومی; GCase; glucocerebrosidase; GD; Gaucher disease; PD; Parkinson disease; Sap; saposin; pSap; prosaposin; FRET; Förster resonance energy transfer; NB-DNJ; N-butyl-deoxynojirimycin; IFG; isofagomine; LIMP-2; lysosomal integral membrane protein type 2; Prosap
The impact of antibodies in late-onset Pompe disease: A case series and literature review
Keywords: اختلال ذخیره سازی لیزوزومی; Lysosomal storage disorder; Pompe disease; Acid α-glucosidase; Alglucosidase alfa; Antibody; Enzyme replacement therapy;