Newborn screening of mucopolysaccharidosis type I.

Burlina, Alberto B; Gragnaniello, Vincenza

Burlina, Alberto B; Gragnaniello, Vincenza.

Affiliation

Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.

Crit Rev Clin Lab Sci ; 59(4): 257-277, 2022 06.

Article in En | MEDLINE | ID: mdl-35037566

Subject(s)

Mucopolysaccharidosis I; Heparitin Sulfate; Humans; Iduronidase/analysis; Infant; Infant, Newborn; Mucopolysaccharidosis I/diagnosis; Neonatal Screening/methods; Tandem Mass Spectrometry/methods

Key words

Lysosomal storage disorders; lysosomal newborn screening; mucopolysaccharidosis type I; second tier test; tandem mass spectrometry

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mucopolysaccharidosis I Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Humans / Infant / Newborn Language: En Journal: Crit Rev Clin Lab Sci Year: 2022 Document type: Article

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