Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

Article ID	Journal	Published Year	Pages	File Type
10833803	Molecular Genetics and Metabolism	2011	6 Pages	PDF

Abstract

âº This is the first study on expanded newborn screening results in Spain. âº The use of urine samples adds an important value to the newborn screening. âº Early treatment of inborn errors of intermediary metabolism improves the prognosis.

Keywords

MMA MADD PDI MCADD PROP MSUD Propionic aciduria NBS Galactokinase deficiency MSCA FFA PGA SCADD MS/MS Free fatty acid Mevalonic Aciduria IEM GalE Maple syrup urine disease intellectual quotient Inborn errors of metabolism Psychomotor Development Index Tandem mass spectrometry Expanded newborn screening Newborn screening MVA Methylmalonic aciduria HPA hyperphenylalaninaemia Biotinidase deficiency GALK

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

Authors

Ma Luz Couce, Daisy E. Castiñeiras, Ma Dolores Bóveda, Ana Baña, José A. Cocho, AgustÃn J. Iglesias, Cristobal Colón, José R. Alonso-Fernández, José M. Fraga,