Concepedia

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism

Andreas Schulze, Ron A. Wevers, Ertan Mayatepek, Peter Bachert, Bart Marescau, Michael V. Knopp, Peter Paul De Deyn, H. J. Bremer, D. Rating

The Journal of Pediatrics · 1997 · 169 citations · 15 references

DOI

Concepts

References

15

Localized high‐resolution proton NMR spectroscopy using stimulated echoes: Initial applications to human brain <i>in vivo</i>

Jens Frahm, Harald Bruhn, Michael L. Gyngell et al. · Magnetic Resonance in Medicine · 1989 · 707 citations · Full text

, , +12

Creatine Deficiency in the Brain: A New, Treatable Inborn Error of Metabolism

Sylvia Stöckler, U. Holzbach, F. Hanefeld et al. · Pediatric Research · 1994 · 418 citations

, , +10

‘Multiple Dipping’ Procedures in Paper Chromatography: a Specific Test for Hydroxy-proline

J.B. Jepson, I.R. Smith · Nature · 1953 · 293 citations

, , +9

Creatine replacement therapy in guanidineoacetate methyltransferase deficiency, a novel inborn error of metabolism

Sylvia Stöckler, F. Hanefeld, Jens Frahm · The Lancet · 1996 · 243 citations

, , +6

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

, , +5