Ontology highlight
ABSTRACT:
SUBMITTER: Baruteau J
PROVIDER: S-EPMC5393288 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Baruteau Julien J Jameson Elisabeth E Morris Andrew A AA Chakrapani Anupam A Santra Saikat S Vijay Suresh S Kocadag Huriye H Beesley Clare E CE Grunewald Stephanie S Murphy Elaine E Cleary Maureen M Mundy Helen H Abulhoul Lara L Broomfield Alexander A Lachmann Robin R Rahman Yusof Y Robinson Peter H PH MacPherson Lesley L Foster Katharine K Chong W Kling WK Ridout Deborah A DA Bounford Kirsten McKay KM Waddington Simon N SN Mills Philippa B PB Gissen Paul P Davison James E JE
Journal of inherited metabolic disease 20170301 3
<h4>Objectives</h4>This UK-wide study defines the natural history of argininosuccinic aciduria and compares long-term neurological outcomes in patients presenting clinically or treated prospectively from birth with ammonia-lowering drugs.<h4>Methods</h4>Retrospective analysis of medical records prior to March 2013, then prospective analysis until December 2015. Blinded review of brain MRIs. ASL genotyping.<h4>Results</h4>Fifty-six patients were defined as early-onset (n = 23) if symptomatic < 28 ...[more]