Browsing Research Articles (Paediatrics and Child Health) by Subject "Inborn errors of metabolism (IEMs)"

Browsing Research Articles (Paediatrics and Child Health) by Subject "Inborn errors of metabolism (IEMs)"

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  • Diagnosing childhood-onset inborn errors of metabolism by next generation sequencing 
    Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E.; Bassett, John K.; Cartwright, Eleanor; Bhaskar, Sanjeev; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew A.M.; Jameson, Elisabeth; Schwahn, Bernd C.; Walter, John H.; Douzgou, Sofia; Murphy, Helen; Hendriksz, Christian J.; Sharma, Reena; Wilcox, Gisela; Crushell, Ellen; Monavari, Ardeshir A.; Martin, Richard; Doolan, Anne; Senniappan, Senthil; Ramsden, Simon C.; Jones, Simon A.; Banka, Siddharth (BMJ Publishing Group, 2017-11)
    BACKGROUND : Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches. METHODS : We designed and ...
  • Recommendations for patient screening in ultra-rare inherited metabolic diseases : what have we learned from Niemann-Pick disease type C? 
    Sobrido, Maria-Jesus; Bauer, Peter; De Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis; Hendriksz, Christian J. (BioMed Central (BMC), 2019-01)
    BACKGROUND: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick ...