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Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

Areeg El‐Gharbawy, Jennifer Goldstein, David S. Millington, Amie E. Vaisnins, Andrea Schlune, Bruce A. Barshop, Andreas Schulze, Dwight D. Koeberl, Sarah P. Young

Molecular Genetics and Metabolism · 2013 · 46 citations · 10 references

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References

10

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

Sylvia Stöckler, Dirk Isbrandt, F. Hanefeld et al. · PubMed · 1996 · 214 citations · Full text

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Creatine deficiency syndromes

Andreas Schulze · Molecular and Cellular Biochemistry · 2003 · 189 citations

GAMT deficiency

Saadet Mercimek‐Mahmutoglu, Sylvia Stoeckler-Ipsiroglu, A. Adami et al. · Neurology · 2006 · 157 citations

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Improving Treatment of Guanidinoacetate Methyltransferase Deficiency: Reduction of Guanidinoacetic Acid in Body Fluids by Arginine Restriction and Ornithine Supplementation

Andreas Schulze, Friedrich Ebinger, D. Rating et al. · Molecular Genetics and Metabolism · 2001 · 156 citations

, , +10

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

Andreas Schulze, Georg F. Hoffmann, Peter Bachert et al. · Neurology · 2006 · 108 citations

, , +15