Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany (Q21202867)

18 August 2022

8

Eugen Mengel

Eugen

Mengel

1 reference

18 August 2022

Martin Lindner

1

Martin

Lindner

1 reference

18 August 2022

Gwendolyn Gramer

2

Gwendolyn

Gramer

1 reference

18 August 2022

Gisela Haege

3

Gisela

Haege

1 reference

18 August 2022

Karl O Schwab

5

Karl O

Schwab

1 reference

18 August 2022

Uta Tacke

6

Uta

Tacke

1 reference

18 August 2022

Friedrich K Trefz

7

Friedrich K

Trefz

1 reference

18 August 2022

Udo Wendel

9

Udo

Wendel

1 reference

18 August 2022

Michael Leichsenring

10

Michael

Leichsenring

1 reference

18 August 2022

Peter Burgard

11

Peter

Burgard

1 reference

18 August 2022

Georg F Hoffmann

12

Georg F

Hoffmann

1 reference

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

2011

0 references

published in

0 references

volume

6

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issue

1

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page(s)

44

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cites work

Newborn screening: toward a uniform screening panel and system--executive summary

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

An evidence development process for newborn screening

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

Clinical research for rare disease: opportunities, challenges, and solutions

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

Developing a national collaborative study system for rare genetic diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

Newborn screening in the Asia Pacific region

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3141366

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-44

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/10.1186%2F1750-1172-6-44

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-44

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-44

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-44

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-44

Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg

21 January 2018

1 reference

12 December 2020

Guiding policy decisions for genetic screening: developing a systematic and transparent approach

1 reference

12 December 2020

Expanded newborn screening: reducing harm, assessing benefit

1 reference

12 December 2020

The Cost-Effectiveness of Expanding the Nhs Newborn Bloodspot Screening Programme To Include Homocystinuria (Hcu), Maple Syrup Urine Disease (Msud), Glutaric Aciduria Type 1 (Ga1), Isovaleric Acidaemia (Iva), and Long-Chain Hydroxyacyl-Coa Dehydroge

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-44

0 references

release_3yvglvreezaevhrzj3ehsevswe

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3yvglvreezaevhrzj3ehsevswe

24 November 2022