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Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency by Nazan Sarper, Emine Zengin, Cornelis Jakobs, Gajja S Salomons, Mirjam Mc Wamelink, Markus Ralser, Koray Kurt, Bülent Kara
Published 2013-04-01Get full text
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Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency by Zahra Nasseri Moghaddam, Emily K. Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham, Beth H. Tiller, Steven A. Baker, Deborah A. Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P. Coller, Ton J. DeGrauw, Vicky Hall, Gerald S. Lipshutz, Nicola Longo, Saadet Mercimek-Andrews, Judith S. Miller, Marzia Pasquali, Gajja S. Salomons, Andreas Schulze, Celine P. Wheaton, Kayla F. Williams, Sarah P. Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stöckler-Ipsiroglu, Heidi Wallis
Published 2025-08-01Get full text
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