Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal‐onset maple syrup urine disease (MSUD) in Ireland. Patients were stratified into three clusters according to clinical outcome at the time of data collection, including developmental, cl...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2021-05, Vol.44 (3), p.639-655
Hauptverfasser:	O'Reilly, Daniel, Crushell, Ellen, Hughes, Joanne, Ryan, Stephanie, Rogers, Yvonne, Borovickova, Ingrid, Mayne, Philip, Riordan, Michael, Awan, Atif, Carson, Kevin, Hunter, Kim, Lynch, Bryan, Shahwan, Amre, Rüfenacht, Véronique, Häberle, Johannes, Treacy, Eileen P., Monavari, Ahmad A., Knerr, Ina
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent branched‐chain amino acids Child Child, Preschool Children Clinical outcomes Data collection Dialysis Diet Diet, Protein-Restricted Dried Blood Spot Testing Early Diagnosis EEG Female Genetic analysis Genotype Genotypes Heredity Humans Infant Infant, Newborn Intelligence Ireland Leucine - blood Male Maple syrup urine disease Maple Syrup Urine Disease - diagnosis Maple Syrup Urine Disease - genetics Metabolism Neonatal Screening - methods Neonates Neuroimaging Patients Phenotype Phenotypes Retrospective Studies
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!