Journal Papers 53 Related Insights 0
Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation Piroli, Gerardo G.; Myers, Rebecca; Holloway, Lynda; Hayek, Andrew; Linebaugh, Ellen; Jones, Julie R.; Skinner, Cindy; Skinner, Steven A.; Frizzell, Norma; Steet, Richard Share Save
Galactose tolerance in adults with classical galactosaemia. Considering the gaps Shakerdi, L. A.; Thacker, C. Newman; Moore, K.; Sheerin, A.; Noga, M.; Rubio-Gozalbo, M. E.; Berry, G. T.; O'Byrne, J. J.; Saldova, R.; Treacy, E. P. Share Save
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries Magner, Martin; Saho, Robert; Slavikova, Petra; Bakalar, Radovan; Dvorakova, Lenka; Peskova, Karolina; Ramadza, Danijela Petkovic; Baric, Ivo; Ilic, Nikola; Cechova, Anna; Reboun, Martin; Vlaskova, Hana; Kelifova, Silvie; Jesina, Pavel; Prochazkova, Dagmar; Hansikova, Hana; Honzik, Tomas; Zeman, Jiri Share Save
Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review Filipic, Maja; Remec, Ziga Iztok; Torkar, Ana Drole; Sustar, Natasa; Cuk, Vanja; Rodaro, Chiara; Debeljak, Marusa; Mlinaric, Matej; Sikonja, Jaka; Silva, Vesna Bancic; Kotnik, Primoz; Battelino, Tadej; Tansek, Mojca Zerjav; Groselj, Urh; Lampret, Barbka Repic Share Save
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