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1.
Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Mol Genet Metab
; 122(4): 209-215, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29089175
2.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Mol Genet Metab
; 122(3): 134-139, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28739201
3.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Mol Genet Metab
; 99(2): 116-23, 2010 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19836982
4.
Implementation of newborn screening for Krabbe disease: population study and cutoff determination.
Clin Biochem
; 42(9): 877-84, 2009 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-19318021
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