Cirrhosis Associated with Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

由 Sudarsanam, Annapurna, Singh, Harry, Wilcken, Bridget, Stormon, Michael, Arbuckle, Susan, Schmitt, Bernhard, Clayton, Peter, Earl, John, Webster, Richard
發表在 JIMD Rep (2014)

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

由 Sandaradura, Sarah A, Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B, Waddell, Leigh B, Jones, Kristi J, Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M, Peters, Gregory B, Algar, Elizabeth M, MacArthur, Daniel G, North, Kathryn N, Brammah, Susan, Charlton, Amanda, Laing, Nigel G, Wilson, Meredith J, Davis, Mark R, Cooper, Sandra T
發表在 Hum Mutat (2018)