Keywords: اختلالات ذخیره سازی لیزوزومی; Abdominal pain; Diarrhoea; Enzyme replacement therapy; Fabry disease; Lysosomal storage disorders; OMIM #301500; Rare diseases;
مقالات ISI اختلالات ذخیره سازی لیزوزومی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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: اختلالات ذخیره سازی لیزوزومی; Lysosomal storage disorders; Lysosomal disorders; Whole exome sequencing; Inborn errors of metabolism; Undiagnosed diseases; Rare diseases;
Keywords: اختلالات ذخیره سازی لیزوزومی; Lysosomal Storage Disorders; Oxidative stress; Reactive species; Oxidative damage; 4-HNE; 4-hydroxynonenal; 7-KC; 7-ketocholesterol; 8-OHdG; 8-hydroxy-2â²-deoxyguanosine; AGE; advanced glycation end product; BD; Batten disease; Ca2Â +; Â calcium; CAT; ca
Keywords: اختلالات ذخیره سازی لیزوزومی; GD; Gaucher disease; LSDs; lysosomal storage disorders; GLD; globoid cell leukodystrophy; IDS; iduronate-2-sulfatase; MPS IVA; Mucopolysaccharidosis type IVA; NPC; Niemann-Pick disease type C; GALNS; N-acetylgalactosamine-6-sulfate sulfatase; AGU; Asparty
Keywords: اختلالات ذخیره سازی لیزوزومی; ER; endoplasmic reticulum; ERT; enzyme replacement therapy; FDA; U.S. Food and Drug Administration; LD; lysosomal disease; M6P; mannose-6-phosphate; M6PR; mannose-6-phosphate receptor; MPS; mucopolysaccharidosis; NPC; Type C Niemann-Pick disease; NPD; Typ
Keywords: اختلالات ذخیره سازی لیزوزومی; Enfermedades de depósito lisosomal; Enfermedad de Gaucher; Enfermedad de Fabry; Mucopolisacaridosis; Lysosomal storage disorders; Gaucher disease; Fabry disease; Mucopolysaccharidosis;
Keywords: اختلالات ذخیره سازی لیزوزومی; Lysosomal storage disorders; Lipid rafts; Membrane lipids; Membrane trafficking; Pharmacological chaperone therapy;
Keywords: اختلالات ذخیره سازی لیزوزومی; Mucopolysaccharidoses; Lysosomal storage disorders; Glycosaminoglycans; Two dimensional electrophoresis;
Keywords: اختلالات ذخیره سازی لیزوزومی; Fabry; Gaucher; lysosomal storage disorders; Niemann Pick; oligosaccharidosis; Pompe; sphingolipidosis
Keywords: اختلالات ذخیره سازی لیزوزومی; lysosomal storage disorders; hepatosplenomegaly; cardiomyopathy; dysostosis multiplex;
Keywords: اختلالات ذخیره سازی لیزوزومی; Chromosomal disorders; Metabolic disorders; Lysosomal storage disorders; Newborn screening; Non-invasive prenatal diagnosis; Preconception counseling
Keywords: اختلالات ذخیره سازی لیزوزومی; hematopoietic stem cell transplantation; leukodystrophies; lysosomal storage disorders; mucopolysaccharidoses; unrelated cord blood
Keywords: اختلالات ذخیره سازی لیزوزومی; Dried blood spots; Newborn screening; Tandem mass spectrometry; Immunoquantification; Lysosomal storage disorders;
Keywords: اختلالات ذخیره سازی لیزوزومی; lysosomal storage disorders; epidemiology; diagnosis; newborn screening; high-risk screening; carrier screening;
Keywords: اختلالات ذخیره سازی لیزوزومی; lysosomal storage disorders; Gaucher disease; mucopolysaccharidosis; mucolipidosis; pycnodysostosis; dysosotosis multiplex; bone involvement; bone crisis; osteoporosis; osteonecrosis;
Keywords: اختلالات ذخیره سازی لیزوزومی; lysosomal storage disorders; blood-brain barrier; neurodegeneration; central nervous system; drug delivery;
Keywords: اختلالات ذخیره سازی لیزوزومی; DBS; Dried blood spots collected on filter paper; MPS I; Mucopolysaccharidosis type I; MPS VI; Mucopolysaccharosis type VI; LSDs; Lysosomal storage disorders; LC/MS/MS; Liquid chromatography combined with tandem mass spectrometry; GAL; Alpha-galactosidase
Keywords: اختلالات ذخیره سازی لیزوزومی; choroba Gauchera i Niemanna-Picka; test suchej kropli; choroby spichrzeniowe; Gaucher and Niemman-Pick diseases; Dried Blood Spot test; lysosomal storage disorders;
Keywords: اختلالات 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: اختلالات ذخیره سازی لیزوزومی; IEM; Consanguineous marriages; Aminoacidopathies; Lysosomal storage disorders
Keywords: اختلالات ذخیره سازی لیزوزومی; Pompe disease; Glycogen storage disease type 2; Acid maltase deficiency; Acid α-glucosidase; Lysosomal storage disorders; Pain;
Keywords: اختلالات ذخیره سازی لیزوزومی; Fabry disease; Lysosomal storage disorders; Pharmacological chaperone; α-Galactosidase A; Globotriaosylceramide;
The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner
Keywords: اختلالات ذخیره سازی لیزوزومی; Lysosomal storage disorders; GM2 gangliosidoses; iNKT cells; CD1d;
Growth impairment in mucopolysaccharidoses
Keywords: اختلالات ذخیره سازی لیزوزومی; Growth impairment; Mucopolysaccharidoses; Glycosaminoglycans; Lysosomal storage disorders; Short stature;
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA
Keywords: اختلالات ذخیره سازی لیزوزومی; Mucopolysaccharidosis IVA; N-acetylgalactosamine-6-sulfate; Keratan sulfate; Chondroitin-6-sulfate; Spondyloepiphyseal dysplasia; 3-MSCT; 3-Minute Stair Climb Test; 4MU-Gal6S; 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate; 6-MWT; 6-Minute Walk Tes
Case studyLimited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
Keywords: اختلالات ذخیره سازی لیزوزومی; Inborn errors of metabolism; Lysosomal storage disorders; Niemann-Pick disease type B; Sphingomyelinase deficiency intermediate type; HSCT, Hematopoietic stem cell transplantation;
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
Keywords: اختلالات ذخیره سازی لیزوزومی; ARSB; Arylsulfatase B; HGMD; human gene mutation database; MPS; mucopolysaccharidoses; LSD; lysosomal storage disorders; DS; dermatan sulfate; Molecular analysis; Mucopolysaccharidoses type VI; Novel mutation; Functional characterization; Pathogenic varia
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India
Keywords: اختلالات ذخیره سازی لیزوزومی; LSDs; Lysosomal Storage Disorders; CT; Chitotriosidase; GD; Gaucher disease; NPD A/B; Niemann Pick disease A/B; ERT; Enzyme Replacement Therapy; Chitotriosidase; Gaucher; Niemann Pick A/B; Lysosomal Storage Disorders;
Ca2+ signalling in human proximal tubular epithelial cells deficient for cystinosin
Keywords: اختلالات ذخیره سازی لیزوزومی; Lysosomal storage disorders; Nephropathic cystinosis; Calcium homeostasis;
Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation
Keywords: اختلالات ذخیره سازی لیزوزومی; 3-NT; 3-nitrotyrosine; ABTS®; 2,2â²-azino-di-3-(ethylbenzthiazoline sulfonate); AChE:Fabâ²; acetylcholinesterase:Fabâ²; CAT; catalase; Cr; creatinine; di-Tyr; di-tyrosine; DNPH; 2,4-dinitrophenylhydrazine; DS; dermatan sulfate; DTNB; 5,5â²-dithiobis-
Bridging NCL research gaps
Keywords: اختلالات ذخیره سازی لیزوزومی; NCL; neuronal ceroid lipofuscinosis; LSD; lysosomal storage disease; ERT; enzyme replacement therapy; ER; endoplasmic reticulum; PoC; proof-of-concept; iPS cell; induced pluripotent stem cell; PD; Parkinson's disease; NPC; Niemann-Pick type C; SLOS; Smi
Oxidative stress parameters of Gaucher disease type I patients
Keywords: اختلالات ذخیره سازی لیزوزومی; β-Glucosidase; Reactive oxygen Species; Gaucher disease type I; Lysosomal storage disorders; Oxidative stress
Conformationally-locked N-glycosides: Exploiting long-range non-glycone interactions in the design of pharmacological chaperones for Gaucher disease
Keywords: اختلالات ذخیره سازی لیزوزومی; Glycomimetic; Glycosidase inhibitor; Pharmacological chaperone; Gaucher disease; Glucocerebrosidase; Lysosomal storage disorders
Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector
Keywords: اختلالات ذخیره سازی لیزوزومی; Tissue engineering; Cornea; Keratocytes; Mucopolysaccharidosis; Lysosomal storage disorders; β-Glucuronidase; Clouding; Primates
Autophagy in aging and neurodegenerative diseases: implications for pathogenesis and therapy
Keywords: اختلالات ذخیره سازی لیزوزومی; Autophagy; Aging; Alzheimer's disease; Parkinson's disease; Huntington's disease; Amyotrophic lateral sclerosis; Lysosomal storage disorders; Therapy;
Agile delivery of protein therapeutics to CNS
Keywords: اختلالات ذخیره سازی لیزوزومی; Aβ; amyloid β; Ab-InsR; antibodies against insulin receptor; Ab-TfR; antibodies against transferrin receptor; AD; Alzheimer's disease; Aerosol OT; bis-(2-ethylhexyl) sulfosucciate; ALS; amyotrophic lateral sclerosis; ApoB; apolipoprotein B; ApoE; apolip
An improved methodology for the synthesis of 1-C-allyl imino-d-xylitol and -l-arabinitol and their rapid functionalization
Keywords: اختلالات ذخیره سازی لیزوزومی; Iminosugars; Pharmacological chaperones; Lysosomal storage disorders; Cross metathesis; Circular dichroism;
Up to five years experience with 11 mucopolysaccharidosis type VI patients
Keywords: اختلالات ذخیره سازی لیزوزومی; Mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome; Enzyme-replacement therapy; Lysosomal storage disorders;
Clinical Neurogenetics
Keywords: اختلالات ذخیره سازی لیزوزومی; Lysosomal storage disorders; Stroke; Myopathy; Leukodystrophy;
Mucopolisacaridosis tipo VII: ¿causa infrecuente de hidrops fetal?
Keywords: اختلالات ذخیره سازی لیزوزومی; Hidrops fetal no inmune; Enfermedades de depósito lisosomal; Mucopolisacaridosis VII; Enfermedad de Sly; Non-immune hydrops fetalis; Lysosomal storage disorders; Mucopolysaccharidosis VII; Sly disease;
Pulmonary Complications of Endocrine and Metabolic Disorders
Keywords: اختلالات ذخیره سازی لیزوزومی; diabetes; pituitary dysfunction; pseudohypoaldosteronism; hypothyroidism; hyperthyroidism; hypoparathyroidism; lysosomal storage disorders
Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders
Keywords: اختلالات ذخیره سازی لیزوزومی; ICAM-1; Polymer nanocarriers; Lysosomal storage disorders; Enzyme replacement therapy; α-glucosidase
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening
Keywords: اختلالات ذخیره سازی لیزوزومی; Short-incubation; Lysosomal storage disorders; Multiplex assay; Tandem mass spectrometry; Newborn screening; Turbulent flow chromatography
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice
Keywords: اختلالات ذخیره سازی لیزوزومی; Au1; primary auditory cortex; CPu; Caudate putamen; GFAP; glial fibrillary acidic protein; LEnt; lateral entorhinal cortex; LGNd; dorsal lateral geniculate nucleus; LSDs; Lysosomal storage disorders; MGN; medial geniculate nucleus; M1; primary motor corte
Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
Keywords: اختلالات ذخیره سازی لیزوزومی; Lysosomal storage disorders; Pompe disease; Fabry disease; Mucopolysaccharidosis; Newborn screening; Metabolic diagnosis
Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses
Keywords: اختلالات ذخیره سازی لیزوزومی; Liquid chromatography; Tandem mass spectrometry; Lysosomal storage disorders; Oligosaccharidoses
The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes
Keywords: اختلالات ذخیره سازی لیزوزومی; Dried blood spots; Lysosomal storage disorders; Newborn screening
Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease
Keywords: اختلالات ذخیره سازی لیزوزومی; Lentiviral vectors; Cardiac-directed therapy; Neonatal therapy; Lysosomal storage disorders
Newborn Bloodspot Screening for Lysosomal Storage Disorders
Keywords: اختلالات ذخیره سازی لیزوزومی; ACMG; American College of Medical Genetics; DBS; Dried blood spot; ERT; Enzyme replacement therapy; HSCT; Hematopoietic stem cell transplantation; LSD; Lysosomal storage disorders; MPS; Mucopolysaccharidosis; MS/MS; Tandem mass spectrometry; NBS; Newborn
Autophagy failure in Alzheimer's disease-locating the primary defect
Keywords: اختلالات ذخیره سازی لیزوزومی; Alzheimer's disease; Autophagy; Lysosome; Autolysosome; Dystrophic neurite; Proteolysis; Presenilin 1; Mouse model; Lysosomal storage disorders;