(Q37948082)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Extended newborn screening: an update for the general paediatrician (English)

1 reference

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15 January 2020

1

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15 January 2020

author name string

Kaustuv Bhattacharya

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

21 October 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

Journal of Paediatrics and Child Health

15 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

E68-72

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Neonatal screening for glutaric aciduria type I: strategies to proceed

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Glutaric aciduria type I: outcome following detection by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Fatty acid oxidation disorders: outcome and long-term prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Diagnosis and treatment of maple syrup disease: a study of 36 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Newborn screening may fail to identify intermediate forms of maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

The impact of screening for propionic and methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Newborn screening for Duchenne muscular dystrophy: a psychosocial study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Ethical issues in newborn screening and the impact of new technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Newborn screening for mucopolysaccharidoses: opinions of patients and their families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Newborn screening for adrenoleukodystrophy: implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1754.2011.02199.X

10.1111/J.1440-1754.2011.02199.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22017206%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference