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within Medicine & Public Health Remove this filter Medical Biochemistry Remove this filter Andreas Schulze Remove this filter

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    Chapter

    Disorders of Creatine Metabolism

    Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary creatine disorders (cerebral creatine deficiency syndromes types 1–3: X-linked creatine transporter (CrT/SLC6A...

    Sylvia Stöckler-Ipsiroglu, Olivier Braissant… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Creatine Disorders

    Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary (AGAT, GAMT, X-linked creatine transporter (SLC6A8) deficiency) and secondary (OAT deficiency) creatine disord...

    Sylvia Stöckler, Olivier Braissant… in Physician's Guide to the Diagnosis, Treatm… (2014)

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    Chapter

    Creatine and Creatine Kinase in Health and Disease – A Bright Future Ahead?

    Many links are reported or suspected between the functioning of creatine, phosphocreatine, the creatine kinase isoenzymes or the creatine biosynthesis enzymes on one hand, and health or disease on the other ha...

    Markus Wyss, Olivier Braissant, Ivo Pischel… in Creatine and Creatine Kinase in Health and… (2007)

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    Chapter

    Pre-Symptomatic Treatment of Creatine Biosynthesis Defects

    Recent observations in two patients, one with AGAT deficiency (AGAT-D) and one with GAMT deficiency (GAMT-D), both diagnosed already at birth, provide first evidence for important therapeutic effects of pre-sy...

    Andreas Schulze, Roberta Battini in Creatine and Creatine Kinase in Health and Disease (2007)