Keywords: بیماری ذخیره سازی لیزوزومی; Anderson-Fabry disease; alpha-Galactosidase deficiency; Lysosomal storage disease; Enfermedad de Fabry-Anderson; Déficit de α-galactosidasa; Enfermedad de depósito lisosomal;
مقالات ISI بیماری ذخیره سازی لیزوزومی (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: بیماری ذخیره سازی لیزوزومی; Glucocerebrosidase deficiency; Lysosomal storage disease; Resting energy expenditure; Insulin resistance; High-density lipoprotein cholesterol; Hepatocellular carcinoma; Gaucher disease; ApoAI; apolipoprotein AI; ApoB; apolipoprotein B; ApoE; apolipoprote
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disorder; lysosomal storage disease; lysosomal enzyme disorder; newborn screening;
Keywords: بیماری ذخیره سازی لیزوزومی; ADA; anti-drug antibodies; AMPK; 5â² adenosine monophosphate-activated protein kinase; aHUS; atypical hemolytic uremic syndrome; AMD; age-related macular degeneration; APC; antigen presenting cells; AT; anaphylatoxin; BTK; Bruton's tyrosine kinase; C1q
Keywords: بیماری ذخیره سازی لیزوزومی; Nonimmne hydrops fetalis; Lysosomal storage disease; Sialic acid storage disease; SLC17A5;
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal acid lipase deficiency; Cholesteryl ester storage disease (CESD); Wolman disease; Liver failure; Liver transplantation; Enzyme replacement therapy; Lysosomal storage disease; LAL-D; Lysosomal acid lipase deficiency; LSD; lysosomal storage diseas
Keywords: بیماری ذخیره سازی لیزوزومی; Fabry disease; Lysosomal storage disease; Sphingolipidoses;
Keywords: بیماری ذخیره سازی لیزوزومی; Cholesteryl Ester Storage Disease; Wolman disease; Cirrhosis; Lysosomal storage disease; Lysosomal acid lipase deficiency;
Keywords: بیماری ذخیره سازی لیزوزومی; Anderson-Fabry disease; electron microscopy; glycolipid cardiomyopathy; lysosomal storage disease;
Keywords: بیماری ذخیره سازی لیزوزومی; Fabry disease; Meningioma; Globotriaosylceramide; Alpha-galactosidase A; Lysosomal storage disease; Cancer;
Keywords: بیماری ذخیره سازی لیزوزومی; Cerebellar hypoplasia; Cerebellar abiotrophy; Lysosomal storage disease;
Keywords: بیماری ذخیره سازی لیزوزومی; Pompe disease; Glycogen storage disease type II; Enzyme replacement therapy; Lysosomal storage disease; Acid maltase deficiency; Autophagy;
Keywords: بیماری ذخیره سازی لیزوزومی; LSD; lysosomal storage disease; CNS; central nervous system; BBB; blood-brain barrier; ERT; enzyme replacement therapy; GAG; glycosaminoglycans; CSF; cerebrospinal fluid; FDA; food and drug administration; ICV; intracerebroventricular; HLA; human leukocyt
Keywords: بیماری ذخیره سازی لیزوزومی; Responsiveness; Patient-reported outcomes; Minimal important difference; Rare disease; Lysosomal storage disease;
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Cardiomyopathy; HEXB; Substrate reduction therapy; Ketogenic diet
Keywords: بیماری ذخیره سازی لیزوزومی; Mucopolysaccharidosis II; Lysosomal storage disease; Cerebrospinal fluid; Glycosaminoglycans; Idursulfase; Cognitive impairment; Inherited metabolic disease
Keywords: بیماری ذخیره سازی لیزوزومی; lysosomal storage disease; nonimmune hydrops; systematic review;
Keywords: بیماری ذخیره سازی لیزوزومی; Diffusion tensor imaging; Neuroimaging; Hurler; Scheie; Enzyme replacement therapy; Lysosomal storage disease; Anisotropy; Brain;
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Lysosome; Recombinant protein; Escherichia coli; Yeast; Glycosylation;
Keywords: بیماری ذخیره سازی لیزوزومی; Eliglustat; Cerdelga; Carcinogenicity; Glucosylceramide synthase inhibitor; Gaucher disease; Lysosomal storage disease; FDA CAC; Food & Drug Administration Executive Carcinogenicity Assessment Committee; GD1; type 1 Gaucher disease; GL-1; glucosylceramide
Keywords: بیماری ذخیره سازی لیزوزومی; lysosomal storage disease; autophagy; endosome; lysosome; Niemann Pick disease; Alzheimer's disease; exocytosis; amyloid; glycosphingolipid; neurodegeneration;
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Niemann–Pick's and Gaucher's diseases; Clinical and molecular features; Enzyme replacement therapy; Glucocerebrosidase mutations and Parkinson's disease
Keywords: بیماری ذخیره سازی لیزوزومی; Adult polyglucosan body disease; Fabry's disease; 1,4-Alpha-glucan branching enzyme; α-Galactosidase A; Lysosomal storage disease;
Keywords: بیماری ذخیره سازی لیزوزومی; juvenile neuronal ceroid lipofuscinosis; JNCL; NCL; CLN3; Batten disease; lysosomal storage disease; hippocampus; MRI volumetry
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Retinal dystrophy; Disorder of sexual development; Congenital malformation; Obesity; Gene therapy
Keywords: بیماری ذخیره سازی لیزوزومی; Krabbe disease; globoid cell leukodystrophy; galactocerebrosidase; lysosomal storage disease; gene therapy; bone marrow transplantation;
Keywords: بیماری ذخیره سازی لیزوزومی; Newborn screening; Lysosomal storage disease; Fabry disease; Pompe disease; Gaucher disease; Tandem mass spectrometry
Keywords: بیماری ذخیره سازی لیزوزومی; Gaucher disease; Lysosomal storage disease; Inborn errors of metabolism; Acid β-glucosidase;
Keywords: بیماری ذخیره سازی لیزوزومی; batten disease; lysosomal storage disease; retinal degeneration; electroretinogram; pupillary light reflex; optic nerve; ganglion cells; brain;
Keywords: بیماری ذخیره سازی لیزوزومی; Fabry's disease; Hereditary neuropathy; Painful neuropathy; Small fiber neuropathy; Lysosomal storage disease; Enzyme replacement therapy
Keywords: بیماری ذخیره سازی لیزوزومی; retinal degeneration; pupillary light reflex; electroretinogram; neuronal ceroid lipofuscinosis; neurodegeneration; lysosomal storage disease;
Keywords: بیماری ذخیره سازی لیزوزومی; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; ANOVA; Analysis of variance; Aβ; amyloid β; bHLH; basic Helix-Loop-Helix; C4; complement C4; CLEAR; coordinated lysosomal expression and regulation; Cyba; cytochrome b-245 light chain; DW; d
Keywords: بیماری ذخیره سازی لیزوزومی; Lacritin; Autophagy; Lysosomal storage disease; Eye; Dry eye; Cornea
Alpha galactosidase A activity in Parkinson's disease
Keywords: بیماری ذخیره سازی لیزوزومی; Parkinson's disease; Lysosomal storage disease; Movement disorders; Neurodegeneration; Biomarkers;
Monocultures of primary porcine brain capillary endothelial cells: Still a functional in vitro model for the blood-brain-barrier
Keywords: بیماری ذخیره سازی لیزوزومی; Blood brain barrier; In vitro models; Drug delivery; Nanoparticles; Enzyme replacement therapy; Impedance spectroscopy; ABC; ATP binding casette; ASA; Arylsulfatase A; ATP; Adenosintriphosphate; Apo-E; Apolipoprotein E; AuNP; Gold nanoparticle; PBCA-NP; p
Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Enzyme replacement therapy; Alpha acid glucosidase; Mannose 6-phosphate receptor targeting;
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Enzyme deficiency; Tandem mass spectrometry; Dried blood spot; Sulfamidase; Mucopolysaccharidosis III type A; LC-MS/MS; liquid chromatography-tandem mass spectrometry; MPS-IIIA; mucopolysaccharidosis III type A; DBS; dried blood
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Inborn errors of metabolism; Enzyme deficiency; C26-LPC; 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine; DBS; dried blood spot on a newborn screening card; GALT; galactose-1-phosphate uridyltransferase; LC-MS/MS; liquid ch
Discovery of a CLN7 model of Batten disease in non-human primates
Keywords: بیماری ذخیره سازی لیزوزومی; CLN7; MFSD8; Late infantile neuronal ceroid lipofuscinosis; Batten disease; Non-human primate; Neurodegeneration; Retinal degeneration; Lysosomal storage disease; Japanese macaque; Large animal model;
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease
Keywords: بیماری ذخیره سازی لیزوزومی; Krabbe disease; Oligodendrocyte; Demyelination; Leukodystrophy; Sphingolipidoses; Lysosomal storage disease;
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system
Keywords: بیماری ذخیره سازی لیزوزومی; CRISPR/Cas; Genome editing; Liposome; Lysosomal storage disease; Mucopolysaccharidosis type I; Nonviral vector;
Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
Keywords: بیماری ذخیره سازی لیزوزومی; DNA; deoxyribonucleic acid; EEG; electroencephalography; Multigene panel next generation sequencing; Lysosomal storage disease; NEU1 gene; Sialidosis; c.699CÂ >Â A (p.S233R); c.803AÂ >Â G (p.Y268C);
Identification of novel missense HEXB gene mutation in Iranian-child with juvenile Sandhoff disease
Keywords: بیماری ذخیره سازی لیزوزومی; Sandhoff disease; Novel missense mutation; Lysosomal storage disease; HEXB gene;
Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophyâ¬â¬â¬â¬â¬â¬â¬â¬
Keywords: بیماری ذخیره سازی لیزوزومی; Hypertrophic cardiomyopathy; Lysosomal storage disease; Pathology; Inborn errors;
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene
Keywords: بیماری ذخیره سازی لیزوزومی; Gangliosidosis; GM2 ganglioside; GM2 ganglioside activator protein; Lysosomal storage disease;
Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosomal storage disease; Mucopolysaccharidosis II; Enzyme replacement therapy; Glycosaminoglycans; Idursulfase; Neutralizing antibodies;
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog
Keywords: بیماری ذخیره سازی لیزوزومی; Neuronal ceroid lipofuscinosis (NCL); Lysosomal storage disease; Alpenländische Dachsbracke; Dog; Deletion of CLN8; Whole genome sequencing;
Methods for monitoring Ca2+ and ion channels in the lysosome
Keywords: بیماری ذخیره سازی لیزوزومی; Lysosome; Ion channel; Lysosome patch-clamp; Calcium; Lysosomal storage disease;
Potential of surfactant-coated nanoparticles to improve brain delivery of arylsulfatase A
Keywords: بیماری ذخیره سازی لیزوزومی; Metachromatic leukodystrophy; Lysosomal storage disease; Enzyme replacement therapy; Blood-brain barrier; Polymeric nanoparticles; Surfactant coating;
A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline
Keywords: بیماری ذخیره سازی لیزوزومی; PSAP; prosaposin; ERG; electroretinograms; LSD; lysosomal storage disease; NPC; Niemann-Pick type C; GFP; green fluorescent protein; RT-PCR; reverse transcription PCR; TEM; transmission electron microscopy; MVB; multivesicular body; MLB; multilamellar bod