Newborn screening. (Q33868506)

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English	Newborn screening.	scientific article

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

Europe PubMed Central

Newborn screening (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

author name string

James J Pitt

1

1 reference

Europe PubMed Central

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3 February 2020

publication date

1 May 2010

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

Clinical Biochemist Reviews

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

31

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Europe PubMed Central

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3 February 2020

2

1 reference

Europe PubMed Central

PMC publication ID

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3 February 2020

57-68

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Whole genome microarray analysis, from neonatal blood cards

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn blood spot screening: new opportunities, old problems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

High-throughput genotyping on archived dried blood spot samples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening for cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Starting neonatal screening for haemoglobinopathies in The Netherlands

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Pitfalls in screening programs for congenital hypothyroidism in premature newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening for hemoglobinopathies in California

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Phenylketonuria: an inborn error of phenylalanine metabolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Improved pulmonary and growth outcomes in cystic fibrosis by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Implementation of the newborn screening programme for sickle cell disease in England: results for 2003-2005.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening for lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Neonatal screening for severe combined immune deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Chemical and pharmacological chaperones as new therapeutic agents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Neonatal screening: from the 'Guthrie age' to the 'genetic age'.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

The PAH gene, phenylketonuria, and a paradigm shift

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening for congenital hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Update of Newborn Screening and Therapy for Congenital Hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Congenital hypothyroidism: from paracelsus to molecular diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Congenital hypothyroidism clinical aspects and late consequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Neonatal screening for congenital cytomegalovirus infection and hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Neonatal screening by DNA microarray: spots and chips

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Outcome in patients with profound biotinidase deficiency: relevance of newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening methods for cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Treatment of phenylketonuria with a diet low in phenylalanine.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Phenylketonuria: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Quantitative Beutler test for newborn mass screening of galactosemia using a fluorometric microplate reader.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Urine screening for aminoacidopathies: Is it beneficial?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Frequency of the delta F508 mutation and XV2c,KM19 haplotypes in cystic fibrosis families from The Netherlands: haplotypes without delta F508 still in disequilibrium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

5 July 2018

The fate of newborn screening blood spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypothyroidism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Newborn blood collections. Science gold mine, ethical minefield

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

The need for neonatal glucose-6-phosphate dehydrogenase screening: a global perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Cord blood thyroxine and thyroid stimulating hormone screening for congenital hypothyroidism: how useful are they?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Newborn screening in South Australia: is it universal?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Congenital hypothyroid screening using cord blood TSH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Evaluation of DNA extraction methods for dried blood spots in the diagnosis of congenital cytomegalovirus infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

European best practice guidelines for cystic fibrosis neonatal screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874432

29 October 2018

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of gestational age: more evidence

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cord blood G-6-PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for congenital adrenal hyperplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactose and galactose-1-phosphate spot test for galactosemia screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of a protocol for newborn screening for disorders of the galactose metabolic pathway

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selective screening for neonatal galactosemia: an alternative approach.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Iodine status in pregnant women and their newborns: are our babies at risk of iodine deficiency?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Iodine in contrast agents and skin disinfectants is the major cause for hypothyroidism in premature infants during intensive care

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of phenylalanine intake on phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Coverage of the Victorian newborn screening programme in 2003: a retrospective population study

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Introducing new screens: why are we all doing different things?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Colorimetric determination of galactose and galactose-1-phosphate from dried blood

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20498829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20498829 AND SRC:MED&resulttype=core&format=json

3 February 2020

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