Keywords: لکوودیستروفی متاکروماتیک; 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
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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: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Psychosis; Demyelinating disease; Leucodistrofia metacromática; Psicosis; Enfermedad desmielinizante;
Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Sulfatide; Metachromatic leukodystrophy; Biomarker; Diagnosis; Mass spectrometry; Electrospray ionisation; MLD; metachromatic leukodystrophy; HPLC-ESI-MS/MS; high pressure liquid chromatography-electrospray ionisation-tandem mass spectrometry; cps; counts
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Child; Gallbladder; Adrenoleukodystrophy; Krabbe disease;
Keywords: لکوودیستروفی متاکروماتیک; 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: لکوودیستروفی متاکروماتیک; X-ALD; X-linked adrenoleukodystrophy; ADLD; Adult onset autosomal dominant leukodystrophy; AGS; Aicardi-Goutières syndrome; AxD; Alexander disease; CER; Comparative effectiveness research; CT; Computed tomography; CTX; Cerebrotendinous xanthomatosis; G
Keywords: لکوودیستروفی متاکروماتیک; LD; Leukodystrophies; gLE; Genetic leukoencephalopathy; MR; Magnetic resonance; MRI; Magnetic resonance imaging; GLIA; Global Leukodystrophy Initiative; CNS; Central nervous system; SIMD; Society for Inherited Metabolic Disorders; VWM; Vanishing white mat
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Tandem mass spectrometry; Newborn screening; Dried blood spots; Lysosomal storage diseases; Urine; Sulfatides;
Keywords: لکوودیستروفی متاکروماتیک; 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: لکوودیستروفی متاکروماتیک; CV; coefficient of variation; DEAE; Diethylaminoethyl; MLD; metachromatic leukodystrophy; Psap-d; prosaposin deficiency; ASA; arylsulfatase A; PTFE; polytetrafluoroethylene; SRM; selected reaction monitoring; MS/MS; tandem mass spectrometry; S/N; signal t
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
Keywords: لکوودیستروفی متاکروماتیک; ISCA2; Neurodevelopmental regression; Hypotonia; White matter; Mitochondrial disease; ISC; Iron-Sulfur Cluster; LAS; Lipoate Synthase; LBSL; Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation; MLD; Metachromatic Leukodys
Properties, metabolism and roles of sulfogalactosylglycerolipid in male reproduction
Keywords: لکوودیستروفی متاکروماتیک; Sulfogalactosylglycerolipid; Seminolipid; Lipidomics; Mass spectrometry; Lipid rafts; Male reproduction; Male fertility; APMs; anterior head plasma membrane vesicles; ARSA; arylsulfatase A; CGT; ceramide galactosyltransferase; CHO; Chinese hamster ovary c
Leucodistrofia metacromática. Presentación de caso
Keywords: لکوودیستروفی متاکروماتیک; Leucodistrofia metacromática; Psicosis; Enfermedad desmielinizante; Metachromatic leukodystrophy; Psychosis; Demyelinating disease;
Potential of surfactant-coated nanoparticles to improve brain delivery of arylsulfatase A
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Lysosomal storage disease; Enzyme replacement therapy; Blood-brain barrier; Polymeric nanoparticles; Surfactant coating;
Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features
Keywords: لکوودیستروفی متاکروماتیک; GLD; Globoid cell leukodystrophy; GALC; Galactocerebrosidase; twi; Twitcher; PND; Post-natal day; CNS; Central nervous system; PNS; Peripheral nervous system; HSCT; Hematopoietic stem cell transplantation; MLD; Metachromatic leukodystrophy; LFB/PAS; Luxol
Disease specific therapies in leukodystrophies and leukoencephalopathies
Keywords: لکوودیستروفی متاکروماتیک; X-ALD; X-linked Adrenoleukodystrophy; AGS; Aicardi-Goutières Syndrome; CSF; cerebrospinal fluid; IFNα; α-interferon; RNA; ribonucleic acid; DNA; deoxyribonucleic acid; SLE; systemic lupus erythematosus; AxD; Alexander disease; GFAP; growth factor ass
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Cerebellar ataxia; Metachromatic leukodystrophy; Arylsulfatase A; Magnetic resonance imaging; Lysosomal storage disease; Neurometabolic disease;
Distribution of C16:0, C18:0, C24:1, and C24:0 sulfatides in central nervous system lipid rafts by quantitative ultra-high-pressure liquid chromatography tandem mass spectrometry
Keywords: لکوودیستروفی متاکروماتیک; Sulfated galactosylceramides; Membrane microdomains; Tandem mass spectrometry; Metachromatic leukodystrophy;
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; MLD; metachromatic leukodystrophy; ARSA; arylsulfatase A; apoE; apolipoprotein E; LRP1 protein; LDL receptor-related protein; AD; Alzheimer's disease; Aβ; beta-amyloid; Metachromatic leukodystrophy; Apolipoprotein E; LDL receptor-related protein; Lysosom
Original ArticleDeterminants of Health Care Use in a Population-Based Leukodystrophy Cohort
Keywords: لکوودیستروفی متاکروماتیک; EDW; Enterprise Data Warehouse; ICU; Intensive care unit; IH; Intermountain Healthcare; MLD; Metachromatic leukodystrophy;
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; ARSA, arylsulfatase A; DD, developmental delay; LI, late infantile; MLD, metachromatic leukodystrophy; MRI, magnetic resonance imaging; Pd, pseudodeficiency; PCR, polymerase chain reaction; WM, white matterArylsulfatase A; Metachromatic leukodystrophy; Ly
Greffes non apparentées de sang placentaire dans les maladies métaboliques
Keywords: لکوودیستروفی متاکروماتیک; Greffe de sang de cordon; Hurler; Adrénoleucodystrophie; Leucodystrophie métachromatique; Cord blood transplant; Hurler; Adrenoleukodystrophy; Metachromatic leukodystrophy;
Neurodevelopmental Outcomes of Umbilical Cord Blood Transplantation in Metachromatic Leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Transplantation outcomes; Neurodevelopmental function
Developing treatment options for metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; ARSA; arylsulfatase A; LSD; lysosomal storage disease; MLD; metachromatic leukodystrophy; HSCT; hematopoietic stem cell transplantation; UCBT; umbilical cord blood transplantation; MSCT; mesenchymal stem cell transplantation; ERT; enzyme replacement thera
A Semi-Automatic Algorithm for Determining the Demyelination Load in Metachromatic Leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; demyelination load; semiautomatic segmentation; magnetic resonance imaging; lesion load;
Leucodystrophie métachromatique de l'enfant à révélation inhabituelle
Keywords: لکوودیستروفی متاکروماتیک; Leucodystrophie métachromatique; Neuropathie périphérique démyélinisante; Enfant; Metachromatic leukodystrophy; Demyelinating peripheral neuropathy; Childhood;
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Peripheral polyneuropathy; Children
Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Saposin B
Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency
Keywords: لکوودیستروفی متاکروماتیک; Multiple sulphatase deficiency; Magnetic resonance imaging; Neurophysiology; Serial findings; Metachromatic leukodystrophy; Mucopolysaccharidosis
Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspects
Keywords: لکوودیستروفی متاکروماتیک; Sulfatides; Metachromatic leukodystrophy; Schizophrenia; Mass spectrometry; Urine
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Gait analysis; Operant conditioning; Behavioural testing; Mouse models; Metachromatic leukodystrophy; Lysosomal storage disorders
Hematopoietic Cell Therapy for Metabolic Disease
Keywords: لکوودیستروفی متاکروماتیک; ALD; Adrenoleukodystrophy; CNS; Central nervous system; ERT; Enzyme replacement therapy; GLD; Globoid cell leukodystrophy; HCT; Hematopoietic stem cell transplantation; LSD; Lysosomal storage disease; M6P; Mannose 6-phosphate; MAPC; Multipotent adult prog
A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Schwann cells; Metachromatic leukodystrophy; Sulfatide; Arylsulfatase A;
Reduced brain cholesterol content in arylsulfatase A-deficient mice
Keywords: لکوودیستروفی متاکروماتیک; Arylsulfatase A; Cholesterol; Metachromatic leukodystrophy; Myelin; Sulfatide
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Novel mutations; Arylsulfatase A deficiency
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Arylsulfatase A; Mitotic recombination; Mosaicism; Demyelinating disorder
Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres
Keywords: لکوودیستروفی متاکروماتیک; Cell-mediated gene therapy; Neural progenitor cell; Neurosphere; Metachromatic leukodystrophy;
Exocytosis of storage material in a lysosomal disorder
Keywords: لکوودیستروفی متاکروماتیک; Lysosomal exocytosis; Sulfatide; Arylsulfatase A; Metachromatic leukodystrophy;
Mutations c.459Â +Â 1GÂ >Â A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries
Keywords: لکوودیستروفی متاکروماتیک; Metachromatic leukodystrophy; Arylsulfatase A; Mutation frequency;
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy
Keywords: لکوودیستروفی متاکروماتیک; Arylsulfatase A; Metachromatic Leukodystrophy; Purification; Enzyme replacement-based therapy;
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides
Keywords: لکوودیستروفی متاکروماتیک; Lysosomal storage disorder; Oligosacchariduria; Electrospray ionization-tandem mass spectrometry; 1-Phenyl-3-methyl-5-pyrazolone; Pompe; α-Mannosidosis; GM1 gangliosidosis; GM2 gangliosidosis; Sandhoff; Tay-Sachs; Sialidosis; I-cell; Sialic acid storag