Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

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作者： Francyne,Kubaski ^[1] ; Zackary M,Herbst ^[2] ; Maira Graeff,Burin ^[3] ; Kristiane,Michelin-Tirelli ^[3] ; Franciele B,Trapp ^[3] ; Rejane,Gus ^[3] ; Alice B O,Netto ^[4] ; Ana Carolina,Brusius-Facchin ^[3] ; Sandra,Leistner-Segal ^[5] ; Maria Teresa,Sanseverino ^[6] ; Carolina Moura Fischinger,de Souza ^[3] ; Matheus V M B,Wilke ^[5] ; Thiago,Oliveira ^[3] ; Jose A A,Magalhães ^[7] ; Roberto,Giugliani ^[8]

作者单位： PPGBM UFRGS Porto Alegre Brazil.;Medical Genetics Service HCPA Porto Alegre Brazil.;INAGEMP Porto Alegre Brazil. ^[1] Department of Chemistry University of Washington Seattle Washington USA. ^[2] Medical Genetics Service HCPA Porto Alegre Brazil. ^[3] PPGBM UFRGS Porto Alegre Brazil.;Medical Genetics Service HCPA Porto Alegre Brazil. ^[4] Medical Genetics Service HCPA Porto Alegre Brazil.;PPGCM UFRGS Porto Alegre Brazil. ^[5] Medical Genetics Service HCPA Porto Alegre Brazil.;Escola de Medicina PUCRS Porto Alegre Brazil. ^[6] Fetal Medicine Unit HCPA, UFRGS Porto Alegre Brazil. ^[7] PPGBM UFRGS Porto Alegre Brazil.;Medical Genetics Service HCPA Porto Alegre Brazil.;INAGEMP Porto Alegre Brazil.;PPGCM UFRGS Porto Alegre Brazil.;Department of Genetics UFRGS Porto Alegre Brazil. ^[8]

关键词 arylsulfatase A metachromatic leukodystrophy prenatal analysis sulfatides tandem mass spectrometry

DOI 10.1002/jmd2.12270

PMID 35281662

发布时间 2024-08-24

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