Teresa Pàmpols

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

Aurora Pujol, Isidró Ferrer, Carme Camps et al. · Human Molecular Genetics · 2004 · 205 citations · Full text

A key role for the peroxisomal<i>ABCD2</i>transporter in fatty acid homeostasis

Stéphane Fourcade, Montserrat Ruíz, Carme Camps et al. · American Journal of Physiology-Endocrinology and Metabolism · 2008 · 98 citations

Lipid Peroxidation, Redox Biology, Oxidative Stress +17

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Ángela Arias, Marc Corbella, Carmen Fons et al. · Clinical Biochemistry · 2007 · 76 citations

Metabolic Syndrome, Creatine Transporter Deficiency, Metabolic Disorder +5

Neuronopathic juvenile glucosylceramidosis due to sap -C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant

Teresa Pàmpols, M. Pineda, M. Girós et al. · Acta Neuropathologica · 1999 · 56 citations

Brain Lipid Composition, Neuroepidemiology, Gaucher Disease Variant +6

X‐linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the <i>ABCD1</i> gene in 80 patients. Improvement of genetic counseling in 162 relative females

MJ Coll, Núria Palau, Carme Camps et al. · Clinical Genetics · 2005 · 41 citations