Keywords: LSD, lysosomal storage diseases; MPS, mucopolysaccharidoses; PND, prenatal diagnosis; GAG, glycosaminoglycan; AMF, amniotic fluid; 2-DE, 2-dimensional electrophoresis; CS, chondroitin sulphate; HA, hyaluronic acid; DS, dermatan sulphate; IDS, iduronate-2-
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.
Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I
Keywords: CE, capillary electrophoresis; CID, collision-induced dissociation; DBS, dried blood spot; ESI, electrospray ionization; Fuc, fucose; Hex, hexose; HexNAc, N-acetylhexosamine; IEX, ion exchange chromatography; LSD, lysosomal storage diseases; MS, mass spec
Optimization of enzymatic diagnosis for mucopolysaccharidosis I in dried blood spots on filter paper
Keywords: MPS I, mucopolysaccharidosis I; IDUA, α-l-iduronidase; LSD, lysosomal storage diseases; DBS, dried blood spots; 4-MU, 4-methylumbelliferone; 4-MU-ID, 4-methylumbelliferyl-α-l-iduronide; TCA, trichloroacetic acid; CV, coefficient of variation; SEM, standar
Influence of pre-analytical factors on α-galactosidase A, arylsulfatase B and α-glucosidase activities measured on dried blood spots on filter paper
Keywords: LSD, lysosomal storage diseases; DBS, dried blood spots on filter paper; FD, Fabry disease; GLA, α-galactosidase A; MPS VI, mucopolysaccharidosis VI; ASB, arylsulfatase B; GSD II, glycogen storage disease type II; GAA, α-glycosidaseLysosomal storage disea
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests
Keywords: NSQAP, Newborn Screening Quality Assurance Program; CDC, Centers for Disease Control and Prevention; LSD, lysosomal storage diseases; GALC, galactocerebrosidase; ABG, β-glucocerebrosidase; GAA, acid α-glucosidase; GLA, acid α-galactosidase A; ASM, acid sp
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy
Keywords: CAT, catalase; ERT, enzyme replacement therapy; GAGs, glycosaminoglycans; LSD, lysosomal storage diseases; MDA, malondialdehyde; MPS, mucopolysaccharidoses; SOD, superoxide dismutase; TAS, total antioxidant statusMucopolysaccharidosis type II; Lysosomal s
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
Keywords: LSD, lysosomal storage diseases; MPS, mucopolysaccharidosis; DBFP, dried-blood filter paper; ARSB, arylsulfatase B; NAGLU, α-N-acetylglucosaminidase; GLA, α-galactosidase; CHIT, chitotriosidase; GLB, β-galactosidase; GBA, β-glucosidase; GUSB, β-glucuronid