Belen Perez Duenas
Perez Duenas B, Toma C, Ormazabal A, Muchart J, Sanmarti F, Bombau G, et al
. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis. 2010;33:795-802 pubmed publisher
..Progressive ataxia and myoclonic epilepsy, together with impaired brain myelination, are clinical hallmarks of the disease. ..
Ortigoza Escobar J, Molero Luís M, Arias A, Oyarzabal A, DarÃn N, Serrano M, et al
. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. Brain. 2016;139:31-8 pubmed publisher
..Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid. ..
Izquierdo Serra M, Martinez Monseny A, Lopez L, Carrillo Garcia J, Edo A, Ortigoza Escobar J, et al
. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. Int J Mol Sci. 2018;19: pubmed publisher
..1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities. ..
Perez Duenas B, De La Osa A, Capdevila A, Navarro Sastre A, Leist A, Ribes A, et al
. Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging. Eur J Paediatr Neurol. 2009;13:534-40 pubmed publisher
..Functional techniques failed to demonstrate any abnormalities in asymptomatic patients, which is in agreement with the integrity of basal ganglia structures observed by conventional MRI sequences. ..
Perez Duenas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, et al
. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics. 2013;131:e1670-5 pubmed publisher
..Thiamine defects should be excluded in newborns and infants with lactic acidosis because prognosis largely depends on the time from diagnosis to thiamine supplementation. ..
Ortigoza Escobar J, Oyarzabal A, Montero R, Artuch R, Jou C, Jimenez C, et al
. Ndufs4 related Leigh syndrome: A case report and review of the literature. Mitochondrion. 2016;28:73-8 pubmed publisher
..Some data, including the clinical phenotype, neuroimaging and biochemical findings, can guide the genetic study in patients with RCC I deficiency. ..
Ortigoza Escobar J, PÃ©rez DueÃ±as B. Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency. Semin Pediatr Neurol. 2016;23:341-350 pubmed publisher
..In this article, we discuss the biology and transport of thiamine and folate, as well as the clinical phenotype of the genetic defects. ..