Expanded newborn screening: reducing harm, assessing benefit (Q84152808)

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1 February 2020

title

Expanded newborn screening: reducing harm, assessing benefit (English)

1 reference

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1 February 2020

author name string

Bridget Wilcken

series ordinal

1

1 reference

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1 February 2020

publication date

4 May 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20440650%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 February 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20440650%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

33

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1 February 2020

issue

Suppl 2

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1 February 2020

page(s)

S205-10

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Malignant hyperphenylalaninaemia—Current status (June 1977)

1 February 2020

cites work

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12 December 2020

Mitochondrial fatty acid oxidation defects--remaining challenges.

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12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

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Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

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Impact of false-positive newborn metabolic screening results on early health care utilization.

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Histidinaemia: screening, diagnosis, clinical picture, therapy

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12 December 2020

The consequences of extended newborn screening programmes: do we know who needs treatment?

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12 December 2020

Salient features of histidinemia

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Histidinaemia: Study of Relation Between Clinical and Biological Findings in 7 Subjects

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12 December 2020

A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening

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12 December 2020

A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene

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First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period

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Histidinaemia: a benign metabolic disorder.

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A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

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Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies

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12 December 2020

Screening of infants and mortality due to neuroblastoma

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12 December 2020

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

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12 December 2020

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

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Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

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3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

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Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies

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Long-term follow-up of 58 patients with histidinemia treated with a histidine-restricted diet: no effect of therapy

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12 December 2020

Fatty acid oxidation disorders: outcome and long-term prognosis

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12 December 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency

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Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

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12 December 2020

Investigation of citrullinemia type I variants by in vitro expression studies

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12 December 2020

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening

1 reference

12 December 2020

Is hereditary histidinaemia harmful?

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12 December 2020

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

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12 December 2020

Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al

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12 December 2020

Parental tolerance of false-positive newborn screening results.

1 reference

12 December 2020

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

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12 December 2020

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism

1 reference

12 December 2020

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

1 reference

12 December 2020

Neonatal screening for citrullinaemia

1 reference

12 December 2020

The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

1 reference

12 December 2020