All Stories

  1. Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry

    Article • Clinical Nutrition, December 2016, Elsevier

    Maria Silva

  2. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

    Article • Neurogenetics, September 2016, Springer Science + Business Media

    Maria Silva

  3. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Article • Mitochondrion, September 2016, Elsevier

    Maria Silva

  4. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    Article • European Journal of Endocrinology, May 2016, Bioscientifica

    Maria Silva

  5. Presentación atípica y diagnóstico tardío en un caso de déficit primario de ácidos biliares

    Article • Medicina Clínica, December 2015, Elsevier

    Maria Silva

  6. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

    Article • Neurogenetics, October 2015, Springer Science + Business Media

    Maria Silva

  7. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    Article • Orphanet Journal of Rare Diseases, December 2014, Springer Science + Business Media

    Maria Silva

  8. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Article • Orphanet Journal of Rare Diseases, November 2014, Springer Science + Business Media

    Maria Silva, MD, PhD Guillem PINTOS-MORELL

  9. Whole-Exome Sequencing Identifies a Variant of the MitochondrialMT-ND1Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

    Article • Human Mutation, October 2013, Wiley

    Maria Silva

  10. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

    Article • BMC Nephrology, September 2013, Springer Science + Business Media

    Maria Silva

  11. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

    Article • Molecular Genetics and Metabolism, September 2013, Elsevier

    Maria Silva

  12. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

    Article • British Journal of Dermatology, March 2012, Wiley

    Maria Silva

  13. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNALeu(CUN) gene

    Article • Mitochondrion, March 2012, Elsevier

    Maria Silva

  14. Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España

    Article • Anales de Pediatría, March 2012, Elsevier

    Maria Silva

  15. Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

    Article • Mitochondrion, March 2012, Elsevier

    Maria Silva

  16. Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

    Article • Headache The Journal of Head and Face Pain, November 2011, Wiley

    Maria Silva

  17. Biochemical parameters to assess choroid plexus dysfunction in Kearns–Sayre syndrome patients

    Article • Mitochondrion, November 2011, Elsevier

    Maria Silva

  18. Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

    Article • Medicina Clínica, October 2011, Elsevier

    Maria Silva

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

    Article • Mitochondrion, August 2010, Elsevier

    Maria Silva

  20. Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing

    Article • Journal of Inherited Metabolic Disease, July 2010, Springer Science + Business Media

    Maria Silva

  21. Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

    Article • Molecular Genetics and Metabolism, April 2010, Elsevier

    Maria Silva

  22. PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

    Article • Journal of Inherited Metabolic Disease, November 2009, Springer Science + Business Media

    Maria Silva

  23. Defectos de creatina cerebral: ¿cómo poder diagnosticar estas enfermedades y cambiar su evolución?

    Article • Medicina Clínica, November 2009, Elsevier

    Maria Silva

  24. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Article • Human Mutation, November 2009, Wiley

    Maria Silva, MD, PhD Guillem PINTOS-MORELL

  25. Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency

    Article • Mitochondrion, September 2009, Elsevier

    Maria Silva

  26. Diagnóstico de los errores innatos del metabolismo

    Article • Anales de Pediatría Continuada, December 2008, Elsevier

    Maria Silva

  27. Déficit del cofactor molibdeno como causa de encefalopatía epiléptica precoz

    Article • Anales de Pediatría, August 2008, Elsevier

    Maria Silva

  28. MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

    Article • Neurology, April 2008, Wolters Kluwer Health

    Maria Silva

  29. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

    Article • Human Molecular Genetics, January 2007, Oxford University Press (OUP)

    Maria Silva

  30. Utilidad del análisis del líquido cefalorraquídeo para el estudio de las deficiencias del metabolismo de neurotransmisores y pterinas y del transporte de glucosa y folato a través de la barrera hematoencefálica

    Article • Medicina Clínica, June 2006, Elsevier

    Maria Silva

  31. Macrophagic Myofasciitis in Childhood: A Controversial Entity

    Article • Pediatric Neurology, November 2005, Elsevier

    Maria Silva

  32. 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

    Article • Pediatric Research, September 2005, Nature

    Maria Silva

  33. Renal pathology in children with mitochondrial diseases

    Article • Pediatric Nephrology, June 2005, Springer Science + Business Media

    Maria Silva

  34. Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

    Article • The American Journal of Human Genetics, February 2004, Elsevier

    Maria Silva

  35. Congenital disorder of glycosylation (CDG) type Ie. A new patient

    Article • Journal of Inherited Metabolic Disease, January 2004, Springer Science + Business Media

    Maria Silva

  36. Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis

    Article • Clinical Chemistry, November 2003, AACC

    Maria Silva

  37. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

    Article • European Journal of Paediatric Neurology, May 2001, Elsevier

    Maria Silva