Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

Peter J Meikle; Enzo Ranieri; Henrik Simonsen; Tina Rozaklis; Steve L Ramsay; Maria Fuller; Ernst Christensen; Flemming Skovby; John J Hopwood; Phil Whitfield

doi:10.1542/peds.2004-0583

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

Peter J Meikle
, Enzo Ranieri
, Henrik Simonsen
, Tina Rozaklis
, Steve L Ramsay
, Maria Fuller
, Ernst Christensen
, Flemming Skovby
, John J Hopwood
, Phil Whitfield

Producción científica: Article › revisión exhaustiva

107 Citas (Scopus)

Resumen

To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder.

Idioma original	English
Páginas (desde-hasta)	909-16
Número de páginas	8
Publicación	Pediatrics
Volumen	114
N.º	4
DOI	https://doi.org/10.1542/peds.2004-0583
Estado	Published - oct 2004

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title = "Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy",

abstract = "To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder.",

keywords = "Antibodies, Monoclonal, Antigens, CD, Biological Markers, Glycosphingolipids, Humans, Infant, Newborn, Lysosomal Storage Diseases, Lysosome-Associated Membrane Glycoproteins, Mass Spectrometry, Neonatal Screening, Oligosaccharides, Retrospective Studies, Saposins, Sensitivity and Specificity",

author = "Meikle, \{Peter J\} and Enzo Ranieri and Henrik Simonsen and Tina Rozaklis and Ramsay, \{Steve L\} and Maria Fuller and Ernst Christensen and Flemming Skovby and Hopwood, \{John J\} and Phil Whitfield",

year = "2004",

month = oct,

doi = "10.1542/peds.2004-0583",

language = "English",

volume = "114",

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T1 - Newborn screening for lysosomal storage disorders

T2 - clinical evaluation of a two-tier strategy

AU - Meikle, Peter J

AU - Ranieri, Enzo

AU - Simonsen, Henrik

AU - Rozaklis, Tina

AU - Ramsay, Steve L

AU - Fuller, Maria

AU - Christensen, Ernst

AU - Skovby, Flemming

AU - Hopwood, John J

AU - Whitfield, Phil

PY - 2004/10

Y1 - 2004/10

N2 - To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder.

AB - To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the identification, at birth, of individuals who have a lysosomal storage disorder.

KW - Antibodies, Monoclonal

KW - Antigens, CD

KW - Biological Markers

KW - Glycosphingolipids

KW - Humans

KW - Infant, Newborn

KW - Lysosomal Storage Diseases

KW - Lysosome-Associated Membrane Glycoproteins

KW - Mass Spectrometry

KW - Neonatal Screening

KW - Oligosaccharides

KW - Retrospective Studies

KW - Saposins

KW - Sensitivity and Specificity

U2 - 10.1542/peds.2004-0583

DO - 10.1542/peds.2004-0583

M3 - Article

C2 - 15466084

SN - 1098-4275

VL - 114

SP - 909

EP - 916

JO - Pediatrics

JF - Pediatrics

IS - 4

ER -

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

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