Lígia S. Almeida

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2004 · 213 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Amy J. Clark, Efraim H. Rosenberg, Lígia S. Almeida et al. · Human Genetics · 2006 · 143 citations

Life Sciences, Genetics, Molecular Genetics +8

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Lígia S. Almeida, Nanda M. Verhoeven, Birthe Roos et al. · Molecular Genetics and Metabolism · 2004 · 136 citations

Life Sciences, Biochemistry, Physiology +10

Exocytotic release of creatine in rat brain

Lígia S. Almeida, Gajja S. Salomons, François Hogenboom et al. · Synapse · 2006 · 129 citations

Life Sciences, Neurobiology, Neuroscience +11

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai et al. · European Journal of Human Genetics · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17