Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
about
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West GermanyGalactose toxicity in animalsNeonatal Screening: Cost-utility Analysis for GalactosemiaNew tools and approaches to newborn screening: ready to open Pandora's box?Healthcare professionals' and parents' experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot.Newborn screening.Ovarian function in Duarte galactosemiaNewborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activityLong-term speech and language developmental issues among children with Duarte galactosemia.Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomesNewborn screening: the genomic challenge.Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study.Appropriateness of newborn screening for classic galactosaemia: a systematic review.Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Galactosemia screening with low false-positive recall rate: the Swedish experience.Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
P2860
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P2860
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Duarte (DG) galactosemia: a pi ...... detected by newborn screening.
@en
Duarte
@nl
type
label
Duarte (DG) galactosemia: a pi ...... detected by newborn screening.
@en
Duarte
@nl
prefLabel
Duarte (DG) galactosemia: a pi ...... detected by newborn screening.
@en
Duarte
@nl
P2093
P1476
Duarte (DG) galactosemia: a pi ...... detected by newborn screening.
@en
P2093
Andrea Mattie
Brian J Forbes
Christie Hussa
Claire Yager
Debra L Day-Salvatore
Nina Thomas
Paul R Gallagher
P304
P356
10.1016/J.YMGME.2008.09.005
P577
2008-10-30T00:00:00Z