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Search: authors:"Hernan Amartino"

3 papers found.
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Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance

, Buckinghamshire, United Kingdom; financial support for these services was provided by BioMarin. MPS Consensus Programme Steering Committee: Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Background The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients. Patients and results Of the 71...

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Robert J Pomponio in:Nature Research journals • PubMed • Google ScholarSearch for Hernan Amartino in:Nature Research journals • PubMed • Google ScholarSearch for Edwin H Kolodny in:Nature Research journals