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Maria del Mar O’Callaghan

Hospital Sant Joan de Déu Barcelona

12

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342

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Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.

2021 Biomedicine & Pharmacotherapy
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

2021 Scientific Reports
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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

2019 Journal of Clinical Medicine
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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

2017 Orphanet Journal of Rare Diseases
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Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

2016
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Clinical, etiological and therapeutic aspects of cerebral folate deficiency

2015 Expert Review of Neurotherapeutics
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Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

2013 PLOS ONE
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Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

2010 Molecular Genetics and Metabolism
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Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

2010 Mitochondrion
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