Keywords: Mucopolysaccharidoses; Maladies de surcharge lysosomale; Contractures articulaires; Dysplasies spondylo-épiphysaires; Maladies rares; Enzymothérapie substitutive;
مقالات ISI (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: 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: MPS; Mucopolysaccharidoses; GAGs; glycosaminoglycans; MPS VII; Mucopolysaccharidosis type VII; GUSB; beta-glucuronidase; Km; Michaelis-Menten constant; Vmax; maximum velocity; DBS; dried blood spots on filter paper; ANOVA; analysis of variance; Mucopolyss
Keywords: Newborns; Glycosaminoglycans; Mucopolysaccharidoses; DMB and electrophoresis;
Keywords: Mucopolysaccharidoses; Screening MPSs; Urinary glycosaminoglycan assay; 1,9-Dimethylene blue; Validation; Reference intervals;
Keywords: Mucopolysaccharidoses; Mucolipidoses; Glycosaminoglycans; Tandem mass spectrometry; Hematopoietic stem cell transplantation;
Keywords: Mucopolysaccharidoses; Cognitive; Adaptive behavior; Neurological; Clinical trial; Protocol;
Keywords: Mucopolysaccharidoses; Lysosomal storage diseases; Behavior; Child behavior disorders; Mental disorders; CNS; central nervous system; GAG; glycosaminoglycan; MPS; mucopolysaccharidosis; MPS IH; Hurler syndrome; T-DSM-IV-S; Turgay Diagnostic and Statistica
Keywords: Mucopolysaccharidoses; Lysosomal storage diseases; Neurobehavioral manifestations; Cognition disorders;
Keywords: NGS; next-generation sequencing; WGS; whole-genome sequencing; WES; whole-exome sequencing; AD; Autosomal Dominant; AR; Autosomal Recessive; XLR; X-Linked Recessive; OI; osteogenesis imperfecta; OSMED; oto-spondylo-mega-epiphyseal dysplasia; SADDAN; sever
Keywords: AEq; age-equivalent; BASC; Behavior Assessment System for Children; ASQ; Ages and Stages Questionnaire; BSID; Bayley Scales of Infant and Toddler Development; CBCL; Child Behavior Checklist; CNS; central nervous system; DAS; Differential Ability Scales; G
Keywords: AAV; adeno-associated viruses; AE; adverse event; BBB; blood-brain barrier; CLN2; ceroid lipofuscinosis neuronal type 2; CNS; central nervous system; CSF; cerebrospinal fluid; DQ; developmental quotient; ERT; enzyme replacement therapy; g7; 7-aminoacid gl
Keywords: ERT, enzyme replacement therapy; GAG, glycosaminoglycan; HSCT, hematopoietic stem cell transplantation; MPS, mucopolysaccharidosisElosulfase alfa; Enzyme replacement therapy; Mucopolysaccharidoses; Pregnancy
Keywords: DAS; Difficult Airway Society; ERT; Enzyme replacement therapy; GAGs; Glycosaminoglycans; HSCT; Hematopoietic stem cell transplantation; MPS; Mucopolysaccharidosis; QoL; Quality of life; Mucopolysaccharidoses; Adult; Disease management; Lysosomal storage
Keywords: Mucopolysaccharidoses; Lysosomal storage disorders; Glycosaminoglycans; Two dimensional electrophoresis;
Keywords: Adenoid tissue; Mucopolysaccharidoses; Histology
Keywords: Hunter syndrome; Mucopolysaccharidoses; Hunter Outcome Survey (HOS); Glycosaminoglycans (GAG); Adults; Adolescents; Children; Enzyme replacement treatment (ERT); Idursulfase; Splenomegaly; Carpal tunnel syndrome; Airway obstructionSíndrome de Hunter; Muco
Keywords: Hunter syndrome; Mucopolysaccharidoses; Hunter Outcome Survey (HOS); Glycosaminoglycans (GAG); Adults; Adolescents; Children; Enzyme replacement treatment (ERT); Idursulfase; Splenomegaly; Carpal tunnel syndrome; Airway obstructionSíndrome de Hunter; Muco
Keywords: hematopoietic stem cell transplantation; leukodystrophies; lysosomal storage disorders; mucopolysaccharidoses; unrelated cord blood
Keywords: Down syndrome; Mucopolysaccharidoses; Pediatric Obstructive Sleep Apnea; Continuous Positive Airway Pressure; OSA-18; ESS-C
Keywords: Automated high-throughput mass spectrometry; Mucopolysaccharidoses; Heparan sulfate; Biomarker; Newborn screening;
Keywords: Mucopolysaccharidoses; Glycosaminoglycans; Mutation; Enzyme activity;
Keywords: CS; chondroitin sulfate; DBS; dried blood spots; DS; dermatan sulfate; ERT; enzyme-replacement therapy; GAG(s); glycosaminoglycan(s); HS; heparan sulfate; HSCT; hematopoietic stem cell transplantation; KS; cheratan sulfate; MPS; mucopolysaccharidoses; 0s;
Keywords: CS, chondroitin sulfate; DS, dermatan sulfate; HA, hyaluronic acid; HS, heparan sulfate; GAG, glycosaminoglycan; KS, keratan sulfate; MPS, mucopolysaccharidosis; TFEB, transcription factor EBCell cycle; Fibroblasts; Genistein; Mucopolysaccharidoses
Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
Keywords: C6S; chondroitin-6-sulfate; cDNA; complementary deoxyribonucleic acid; GAGs; glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfatase; gDNA; genomic DNA; HCPA; Hospital de ClÃnicas de Porto Alegre; HGMD; The Human Gene Mutation Database; KS; keratan
Growth impairment in mucopolysaccharidoses
Keywords: Growth impairment; Mucopolysaccharidoses; Glycosaminoglycans; Lysosomal storage disorders; Short stature;
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA
Keywords: 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
Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Keywords: Lysosomal diseases; Gene frequency; Molecular genetics; Therapeutics; Population screening; Mucopolysaccharidoses; Sphingolipidoses;
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling
Keywords: IEM; inborn errors of metabolism; LSD; lysosomal storage diseases; MPS; mucopolysaccharidoses; GAGs; glycosaminoglycans; MPS I; mucopolysaccharidosis type I; MPS IT; treated mucopolysaccharidosis type I; UPLC-IM-MS; ultraperformance liquid chromatography-
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Keywords: CNS; Central nervous system; DBS; Dried blood spot; ERT; Enzyme replacement therapy; GAG; Glycosaminoglycan; HSCT; Hematopoietic stem cell transplantation; IDUA; α-L-iduronidase; MPS; Mucopolysaccharidoses; MPS I; Mucopolysaccharidosis type I; MRI; Magne
Anaerobic sulfatase maturase AslB from Escherichia coli activates human recombinant iduronate-2-sulfate sulfatase (IDS) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS)
Keywords: Cys; Cysteine; FGly; Formylglycine; GALNS; N-acetylgalactosamine-6-sulfate sulfatase; GALNSSer; GALNS cDNA containing mutation C79S; IDS; iduronate-2-sulfate sulfatase; MPS; Mucopolysaccharidoses; anSMEs; Anaerobic sulfatase maturating enzymes; SUMF1; Sul
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
Keywords: MPS IVA; Mucopolysaccharidosis type 4 -A; GALNS; N-acetylgalactosamine-6-sulfatase; GAGs; Glycosaminoglycans; NRC; National Research Centre; MPSs; Mucopolysaccharidoses; GLB1; β-Galactosidase; KS; Keratan Sulfate; C6S; Chondroitin-6-Sulfate; kDa; Kilo
Mucopolysaccharidoses seen in adults in rheumatology
Keywords: Mucopolysaccharidoses; Lysosomal storage diseases; Joint contractures; Spondyloepiphyseal dysplasia; Rare diseases; Enzyme replacement therapy;
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)
Keywords: 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
UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses
Keywords: Mucopolysaccharidoses; Tandem mass spectrometry; Glycosaminoglycans; Dermatan sulfate; Heparan sulfate; Keratan sulfate; Chondroitin sulfate
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: 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-
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy
Keywords: 8-OHdG; 8-hydroxy-2â²-deoxyguanosine; CAT; catalase; Cr; creatinine; DI; damage index; Di-Tyr; di-tyrosine; DMB; 1,9-dimethylmethylene blue; DTNB; 5,5â²-dithiobis(2-nitrobenzoic acid); Endo III; endonuclease III; ELISA; enzyme-linked immunoassay; ERT; e
Serum dipeptidyl peptidase-IV: A better screening test for early detection of mucopolysaccharidosis?
Keywords: Mucopolysaccharidoses; Urinary GAG/Creatinine ratio; Serum DPP-IV enzyme activity
NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
Keywords: Mucopolysaccharidoses; NK cells; B cells; Immunodeficiency; Autoimmunity
Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway
Keywords: Mucopolysaccharidoses; Airway obstruction; Obstructive sleep apnea; Palatine tonsil; Adenoids; Otitis media with effusion
Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum
Keywords: Mucopolysaccharidoses; Neuroimaging; Cerebellum; Posterior fossa; Perivascular spaces; Macrocerebellum
Low Bone Mineral Content and Challenges in Interpretation of Dual-Energy X-Ray Absorptiometry in Children With Mucopolysaccharidosis Types I, II, and VI
Keywords: Bone mineral content; bone mineral density; mucopolysaccharidoses; osteoporosis; skeletal dysplasia;
Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome)
Keywords: Mucopolysaccharidoses; Hunter's syndrome; Tracheostomy; Airway
Neuroimaging findings in patient series with mucopolysaccharidosis
Keywords: Hurler syndrome; Hunter syndrome; Neuroimaging findings; Neurological signs and symptoms; Mucopolysaccharidoses; Virchow–Robin perivascular spacesEspacios perivasculares de Virchow–Robin; Manifestaciones neurológicas; Mucopolisacaridosis; Neuroimagen; Sín
Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis
Keywords: Espacios perivasculares de Virchow-Robin; Manifestaciones neurológicas; Mucopolisacaridosis; Neuroimagen; SÃndrome de Hurler; SÃndrome de Hunter; Hurler syndrome; Hunter syndrome; Neuroimaging findings; Neurological signs and symptoms; Mucopolysacchari
Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility
Keywords: 6MWT; six-minute walk test; BMP; bis(monoacylglycero)phosphate; CLN; ceroid lipofuscinosis; CSF; cerebral spinal fluid; DPP-IV; dipeptidyl peptidase IV; ESI-MS/MS; electrospray ionization-tandem mass spectrometry; ERT; enzyme replacement therapy; GAG; gly
Otras enfermedades metabólicas
Keywords: Enfermedad de Wilson; Enfermedades de los lisosomas; Mucopolisacaridosis; Esfingolipidosis; Wilson disease; Lisosomal storage disease; Mucopolysaccharidoses; Sphingomyelin-cholesterol lipidosis;
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Keywords: ARSB; arylsulfatase B gene; ASB; arylsulfatase B; BMT; bone marrow transplantation; DBS; dry blood spot; dx; diagnosis; ERT; enzyme replacement therapy; GAG; glycosaminoglycan; HSCT; hematopoietic stem cell transplantation; LSDP; Life Saving Drugs Program
Congenital Disorders Affecting Sleep
Keywords: Obstructive sleep apnea; Micrognathia; Craniosynostosis; Pierre Robin sequence; Achondroplasia; Trisomy 21; CHARGE syndrome; Mucopolysaccharidoses;
Hearing Loss and Airway Problems in Children With Mucopolysaccharidoses
Keywords: Mucopolysaccharidoses; Hearing loss; AirwayMucopolisacaridosis; Hipoacusia; Vía aérea