Concepedia

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra, Rose S. deGrauw, Helger G. Yntema, Nadia Bahi, Claude Moraine, Hans‐Hilger Ropers, Jean‐Pierre Fryns, Ton J. deGrauw,

The American Journal of Human Genetics · 2004 · 213 citations · 23 references

DOIFull text

Open access

Concepts

References

23

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

, , +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

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Gajja S. Salomons, Silvy J.M. van Dooren, Nanda M. Verhoeven et al. · The American Journal of Human Genetics · 2001 · 397 citations · Full text

, , +9

Nonspecific X‐linked mental retardation II: The frequency in British Columbia

Diana S. Herbst, James R. Miller · American Journal of Medical Genetics · 1980 · 271 citations

, , +4

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Chike Bellarmine Item, Sylvia Stöckler‐Ipsiroglu, Carmen Stromberger et al. · The American Journal of Human Genetics · 2001 · 254 citations · Full text

, , +11