High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation
2004 · The American Journal of Human Genetics · 209 citations
https://doi.org/10.1086/422102
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Gajja S. Salomons
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Gajja S. Salomons is an academic researcher from Amsterdam Neuroscience. The author has contributed to research in topics: Metabolism and Genetic Disorders & Muscle metabolism and nutrition & Amino Acid Enzymes and Metabolism. The author has an h-index of 59, co-authored 267 publications.
ORCID: 0000-0003-2509-3648Papers by this author
worksPhenotype and genotype in 101 males with X-linked creatine transporter deficiency
2013 · Journal of Medical Genetics · 162 citations
https://doi.org/10.1136/jmedgenet-2013-101658
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
2006 · Human Genetics · 143 citations
https://doi.org/10.1007/s00439-006-0162-9
X‐linked creatine transporter deficiency: clinical aspects and pathophysiology
2014 · Journal of Inherited Metabolic Disease · 114 citations
https://doi.org/10.1007/s10545-014-9713-8
Two novel mutations in <i>SLC6A8</i> cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families
2004 · American Journal of Medical Genetics Part A · 57 citations
https://doi.org/10.1002/ajmg.a.30473
The screening of <i>SLC6A8</i> deficiency among Estonian families with X‐linked mental retardation
2009 · Journal of Inherited Metabolic Disease · 52 citations
https://doi.org/10.1007/s10545-008-1063-y
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