Propionic acidemia in Mexico: Clinical and genotypic spectrum
Vela-Amieva, M.; Alcantara-Ortigoza, M. A.; Guillen-Lopez, S.; Lopez-Mejia, L.; Gonzalez-del Angel, A.; Reyna-Fabian, M.; Fernandez-Hernandez, L.; Lopez-Velazquez, Gabriel; Mancera-Hernandez, D.; Enriquez-Flores, S.; Ibarra-Gonzalez, I.; Fernandez-Lainez, C..png)
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Save DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfallLi, Moe; Sasai, Hideo; Taniguchi, Hiroaki; Ishida, Atsushi; Kuwabara, Yuya; Matsumoto, Hideki; Terazawa, Daisuke; Kanayama, Tomohiro; Miyazaki, Tatsuhiko; Hara, Akira; Murayama, Kei Share Save Development of a quality control panel based on patient-derived immortalized B-Lymphoblastoid cell lines for thalassemia genotypingZhang, Huiling; Han, Liqiao; Feng, Yingyi; Yang, Longqiang; Qiu, Yuxiang; Zhang, Cheng; Li, Tingting; Ke, Peifeng; Kong, Qi; Liu, Yuanyuan; Yao, Chenyang; Huang, Xianzhang; Wang, Yi Share Save POLG-related disorders: Clinical and molecular Spectrum in the Saudi populationAl Mutairi, Fuad; Joueidi, Faisal; Al Mutairi, Ziyad A.; Alshalan, Maha; Eyaid, Wafaa; Mushiba, Aziza M.; AlGhamdi, Malak; Tabarki, Brahim; AlGhamdi, Abdulaziz; AlTassan, Ruqaiah; Alzaidan, Hamad; Sharif, Abubakar; Aldhalaan, Hesham; Umair, Muhammad; Alfadhel, Majid Share Save Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantationPiroli, 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 gapsShakerdi, 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 
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