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1.
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Hum Mutat
; 35(1): 86-95, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24123825
2.
MCAD deficiency in Denmark.
Mol Genet Metab
; 106(2): 175-88, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22542437
3.
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 Rep
; 3: 11-5, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23430868
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