Expanding the phenotype in argininosuccinic aciduria: need for new therapies

OBJECTIVES: 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. METHODS: Retrospective analysis of medical records prior to March 20...

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Bibliografski detalji
Izdano u:J Inherit Metab Dis
Glavni autori: Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.
Format: Artigo
Jezik:Inglês
Izdano: Springer Netherlands 2017
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Original Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393288/
https://ncbi.nlm.nih.gov/pubmed/28251416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0022-x
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