NGS for Metabolic Disease Diagnosis
EJIFCC
.
2018 Nov 7;29(3):227-229.
eCollection 2018 Nov.
Authors
Dèlia Yubero
1
,
Rafael Artuch
2
Affiliations
1
Department of Genetics and Molecular Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
2
Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, and CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
PMID:
30479609
PMCID:
PMC6247130
No abstract available
Keywords:
inborn errors of metabolism; next generation sequencing.