(Q79886960)

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

scientific article published on 01 August 2006

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scholarly article

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26 December 2019

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

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26 December 2019

3-methylcrotonyl-CoA carboxylase deficiency

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Sonja C Stadler

1

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26 December 2019

Roman Polanetz

2

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26 December 2019

Esther M Maier

3

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26 December 2019

Sylvia C Heidenreich

4

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26 December 2019

Birgit Niederer

5

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26 December 2019

Peter U Mayerhofer

6

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26 December 2019

Florian Lagler

7

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26 December 2019

Hans-Georg Koch

8

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26 December 2019

René Santer

9

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26 December 2019

Janice M Fletcher

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26 December 2019

Enzo Ranieri

11

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26 December 2019

Anibh M Das

12

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26 December 2019

Ute Spiekerkötter

13

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26 December 2019

Karl O Schwab

14

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26 December 2019

Simone Pötzsch

15

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26 December 2019

Iris Marquardt

16

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26 December 2019

Julia B Hennermann

17

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26 December 2019

Ina Knerr

18

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26 December 2019

Saadet Mercimek-Mahmutoglu

19

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26 December 2019

Nicolai Kohlschmidt

20

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26 December 2019

Bernhard Liebl

21

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26 December 2019

Ralph Fingerhut

22

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26 December 2019

Bernhard Olgemöller

23

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26 December 2019

Ania C Muntau

24

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26 December 2019

Adelbert A Roscher

25

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26 December 2019

Wulf Röschinger

26

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26 December 2019

publication date

1 August 2006

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26 December 2019

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26 December 2019

27

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26 December 2019

8

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26 December 2019

748-759

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26 December 2019

Isolated biotin‐resistant deficiency of 3‐methylcrotonyl‐CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20349

7 January 2021

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Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20349

7 January 2021

based on heuristic

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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

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7 January 2021

based on heuristic

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Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

1 reference

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7 January 2021

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Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome

1 reference

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7 January 2021

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

1 reference

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7 January 2021

based on heuristic

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The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

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7 January 2021

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RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

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7 January 2021

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

1 reference

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7 January 2021

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Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

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7 January 2021

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Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency

1 reference

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7 January 2021

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

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7 January 2021

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Nonsense-mediated mRNA decay in health and disease

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7 January 2021

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The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

1 reference

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7 January 2021

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3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

1 reference

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7 January 2021

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Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

1 reference

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7 January 2021

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Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

1 reference

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7 January 2021

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An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness

1 reference

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7 January 2021

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Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.

1 reference

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7 January 2021

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The impact of population heterogeneity on risk estimation in genetic counseling

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

1 reference

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7 January 2021

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Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20349

7 January 2021

based on heuristic

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Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20349

7 January 2021

based on heuristic

inferred from DOI database lookup

Newborn screening--setting evidence-based policy for protection

1 reference

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7 January 2021

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inferred from DOI database lookup

Benign clinical presentation of 3-methylcrotonylglycinuria

1 reference

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7 January 2021

based on heuristic

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Isolated 3‐methylcrotonyl‐CoA carboxylase deficiency in a 16‐month‐old child

1 reference

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7 January 2021

based on heuristic

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3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase

1 reference

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7 January 2021

based on heuristic

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Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20349

7 January 2021

based on heuristic

inferred from DOI database lookup

Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20349

7 January 2021

based on heuristic

inferred from DOI database lookup

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.

1 reference

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7 January 2021

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Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia

1 reference

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7 January 2021

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Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

1 reference

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7 January 2021

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Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

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7 January 2021

based on heuristic

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Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.

1 reference

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Identifiers

10.1002/HUMU.20349

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835865%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16835865%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

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