A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

por Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A, Lindley, Keith J, Sibson, Keith R, Rahman, Shamima
Publicado 2013

Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

por Keshavan, Nandaki, Wood, Michelle, Alderson, Lucy M., Cortina‐Borja, Mario, Skeath, Rachel, McSweeney, Mel, Dixon, Marjorie, Cleary, Maureen A., Footitt, Emma, Batzios, Spyros
Publicado 2021

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

por Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří
Publicado 2018