Normal levels of plasma free carnitine and acylcarnitines in follow-up samples from a presymptomatic case of carnitine palmitoyl transferase 1 (CPT1) deficiency detected through newborn screening in Denmark

JIMD Reports

Volumn 3, Issue , 2012, Pages 11-15

  Borch, Luise ^a   Lund, Allan Meldgaard ^b   Wibrand, Flemming ^b   Christensen, Ernst ^b   Søndergaard, Charlotte ^c   Gahrn, Birthe ^a   Hougaard, David Michael ^d   Andresen, Brage Storstein ^e   Gregersen, Niels ^a   Olsen, Rikke Katrine Jentoft ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b Rigshospitalet   (Denmark)

^c HERNING HOSPITAL   (Denmark)

^d STATENS SERUM INSTITUT   (Denmark)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

Free carnitine; Newborn screening; Newborn screening program; Residual enzyme activity; Urine organic acid

Indexed keywords

EID: 84882862159     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_35     Document Type: Chapter

References (11)

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