MARÍA TERESA
GARCÍA SILVA
Forscherin bis um 2019
![Foto de Rafael](/img/nophoto.png)
Rafael
Artuch Iriberri
Publikationen, an denen er mitarbeitet Rafael Artuch Iriberri (8)
2017
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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)
Journal of Inherited Metabolic Disease
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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 709-713
2016
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
2014
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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Orphanet journal of rare diseases, Vol. 9, pp. 217
2011
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Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mitochondrion, Vol. 11, Núm. 6, pp. 867-870
2010
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Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mitochondrion, Vol. 10, Núm. 5, pp. 429-432
2008
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Mitochondrial diseases associated with cerebral folate deficiency
Neurology, Vol. 70, Núm. 16, pp. 1360-1362