(Q46632728)

English

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

scientific article published in November 2005

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scholarly article

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening (English)

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

1 reference

based on heuristic

inferred from title

object named as

C Ficicioglu

1

0 references

author name string

M R K Chrisant

2

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

I Payan

3

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

D H Chace

4

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

publication date

1 November 2005

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

Pediatric Cardiology

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

26

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

6

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

881-883

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

https://scigraph.springernature.com/pub.10.1007/s00246-005-1045-x

0 references

The molecular basis of malonyl-CoA decarboxylase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malonic aciduria and cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal neonatal malonic aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malonyl coenzyme a decarboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malonyl coenzyme A decarboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acute stimulation with long chain acyl-CoA enhances exocytosis in insulin-secreting cells (HIT T-15 and NMRI beta-cells).

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://pubmed.ncbi.nlm.nih.gov/16078122

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00246-005-1045-X

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

1 reference

Europe PubMed Central

23 December 2017

http://europepmc.org/abstract/MED/16078122

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