Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?-Reference-Cited by-同舟云学术

Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?

Published:2004-03 Issue:1 Volume:27 Page:81-88
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lehotay D. C.¹²,LePage J.²,Thompson J. R.³,Rockman-Greenberg C.⁴

Affiliation:

1. ; College of Medicine; University of Saskatchewan; Saskatoon Saskatchewan

2. ; Saskatchewan Health Provincial Laboratory; Regina Saskatchewan

3. ; Cadham Provincial Laboratory; Winnipeg Manitoba

4. ; Departments of Pediatrics and Child Health & Biochemistry and Medical Genetics; University of Manitoba; Winnipeg Manitoba Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000016636.79030.ad/fullpdf

Reference18 articles.

1. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?;Andresen;Hum Mol Genet,1997

2. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency;Andresen;Am J Hum Genet,2001

3. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry;Chace;Clin Chem,1997

4. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene;Gregersen;Clin Chim Acta,1991

5. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children;Iafolla;J Pediatr,1994

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1. Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?;Journal of Inherited Metabolic Disease;2021-02-25

2. Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing;Genetics in Medicine;2017-01

3. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study;Orphanet Journal of Rare Diseases;2016-02-03

4. Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives;Research and Reports in Neonatology;2016-01

5. Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges;International Journal of Neonatal Screening;2015-11-23