Titlebook: JIMD Reports, Volume 42; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlaal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition

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Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients,iagnosed in 33 patients. T?here are few reports regarding the long-term follow-up of these patients..The . of our study is to present the disease progression in the form of a systematic long-term follow-up of four Polish patients with TALDO...: We report four patients who manifested early onset TALD

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