(Q84152808)

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

1 February 2020

title

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

1 reference

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

1 February 2020

author name string

Bridget Wilcken

series ordinal

1

1 reference

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

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

1 reference

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

1 reference

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

1 February 2020

issue

Suppl 2

1 reference

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

1 February 2020

page(s)

S205-10

1 reference

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

https://scigraph.springernature.com/pub.10.1007/s10545-010-9106-6

1 February 2020

exact match

0 references

cites work

Malignant hyperphenylalaninaemia—Current status (June 1977)

1 reference

12 December 2020

Mitochondrial fatty acid oxidation defects--remaining challenges.

1 reference

12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Histidinaemia: screening, diagnosis, clinical picture, therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Salient features of histidinemia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Histidinaemia: a benign metabolic disorder.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening of infants and mortality due to neuroblastoma

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Fatty acid oxidation disorders: outcome and long-term prognosis

1 reference

12 December 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Investigation of citrullinemia type I variants by in vitro expression studies

1 reference

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?

1 reference

12 December 2020

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

1 reference

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

1 reference

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

1 reference

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