Neonatal screening for medium chain acyl-CoA deficiency: High incidence in Lower Saxony (northern Germany)

European Journal of Pediatrics

Volumn 160, Issue 5, 2001, Pages 318-319

  Sander, Stefanie ^a   Janzen, Nils ^a   Janetzky, Bernd ^b   Scholl, Sabine ^c   Steuerwald, Ulrike ^a   Schäfer, Jochen ^b   Sander, Johannes ^a  

^a Screening Labor   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMINO ACID;

ARTICLE; COST EFFECTIVENESS ANALYSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GERMANY; HUMAN; INFECTION; METABOLIC INHIBITION; MORBIDITY; NEWBORN; NEWBORN SCREENING; PREVALENCE; PRIORITY JOURNAL; RISK MANAGEMENT; TANDEM MASS SPECTROMETRY;

EID: 0035053241     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00008439     Document Type: Article

References (4)

1. Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
2. 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
3. Tandemmassenspektrometrie. Beitrag zum neugeborenenscreening auf angeborene störungen des stoffwechsels
4. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus: Clinical and evolutionary consideration