Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kirsten McKay Bounford"'
Autor:
C. Lloyd, Deirdre Kelly, Kirsten McKay Bounford, Christian J. Hendriksz, Fiona MacDonald, Nicola Ruth, Ulrich Baumann, Rebecca Jeyaraj, Paul Gissen
Publikováno v:
Genes
Genes, Vol 12, Iss 1837, p 1837 (2021)
Genes, Vol 12, Iss 1837, p 1837 (2021)
Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f42c02562c5894db809a7c7f0c1be73
https://pubmed.ncbi.nlm.nih.gov/34828443
https://pubmed.ncbi.nlm.nih.gov/34828443
Autor:
Saikat Santra, Clare E. Beesley, Julien Baruteau, Andrew A. M. Morris, Katharine Foster, James Davison, Kirsten McKay Bounford, Philippa B. Mills, Stephanie Grunewald, Lara Abulhoul, Deborah Ridout, Elisabeth Jameson, Elaine Murphy, Alexander Broomfield, Maureen Cleary, Anupam Chakrapani, Robin H. Lachmann, Suresh Vijay, Peter H. Robinson, W. Kling Chong, Paul Gissen, Yusof Rahman, Simon N. Waddington, Helen Mundy, Lesley MacPherson, Huriye Kocadag
Publikováno v:
Journal of Inherited Metabolic Disease
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 Retrospecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99525903c95659b44dc65e01e974f1a7