Mercedes Pineda

发表

Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism

H. Moser, R. Wanders, F. Roels, 1999, Journal of child neurology.

Peroxisome mosaics.

R. Wanders, H. Mandel, P. Krystkowiak, 2003, Advances in experimental medicine and biology.

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

H. Leffers, M. Durán, M. Schwartz, 1997, Journal of Inherited Metabolic Disease.

Friedreich's ataxia: idebenone treatment in early stage patients.

E. Monrós, R. Artuch, M. Pineda, 2002, Neuropediatrics.

Inborn errors of metabolism and motor disturbances in children

S. Dimauro, M. Pineda, À. García‐Cazorla, 2009, Journal of Inherited Metabolic Disease.

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2010 .

MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

N. Blau, V. Ramaekers, A. Ormazabal, 2008, Neurology.

Cerebrospinal Fluid Concentrations of Folate, Biogenic Amines and Pterins in Rett Syndrome: Treatment with Folinic Acid

A. Ormazabal, R. Artuch, M. Pineda, 2005, Neuropediatrics.

Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

P. Navas, R. Artuch, M. Pineda, 2005, BioFactors.

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

F. Sánchez-Jiménez, A. Ribes, L. Vilarinho, 2010, Clinical genetics.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

E. Schaftingen, R. Wevers, B. Poll-The, 1997, Journal of Inherited Metabolic Disease.

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

M. Knaap, B. Poll-The, M. Pineda, 2000, Neuropediatrics.