3 results match your criteria: "Spain. agarcia@sjdhospitalbarcelona.org.[Affiliation]"
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.
Neuroradiology
November 2022
Inborn Errors of Metabolism Unit, Pediatric Neurology Department, Institut de Recerca Sant Joan de Déu, and MetabERN, Hospital Sant Joan de Déu, Passeig Sant Joan De Deu Nº 2, 08950, Esplugues De Llobregat, Barcelona, Spain.
Purpose: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers.
View Article and Find Full Text PDFImpairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Acta Neuropathol
December 2020
Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
J Clin Med
January 2019
Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain.
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients ( = 95) with a definitive genetic diagnosis, giving special emphasis on clinical muscle involvement, biochemical and histopathological features. Of the whole cohort, 51 patients harbored mutations in nuclear DNA (nDNA) genes and 44 patients had mutations in mitochondrial DNA (mtDNA) genes.
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