Publications by authors named "Mireia del Toro"

29Publications

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Mol Genet Metab 2019 06 21;127(2):138-146. Epub 2019 May 21.

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193026
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http://dx.doi.org/10.1016/j.ymgme.2019.05.011DOI Listing
June 2019

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Mol Genet Metab 2019 03 5;126(3):250-258. Epub 2019 Jan 5.

Department of Child Neurology, Hospital Vall d'Hebron - Institut de Recerca (VHIR), Barcelona, Spain; CIBERER, Centro de Investigaciones Biomédicas en Red de Enfermedades Raras, Madrid, Spain; Faculty of Medicine, Universitat Autónoma de Barcelona, Unitat Docent Vall d'Hebrón, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183069
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http://dx.doi.org/10.1016/j.ymgme.2019.01.001DOI Listing
March 2019

Reply.

Liver Transpl 2019 01;25(1):178-179

HPB Surgery and Transplants Department, Hospital Universiatri Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1002/lt.25389DOI Listing
January 2019

The Role of Liver Transplantation in Propionic Acidemia.

Liver Transpl 2018 12;24(12):1736-1745

HPB Surgery and Transplant Department, Hospital Universiatri Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1002/lt.25344DOI Listing
December 2018

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.

Medicine (Baltimore) 2018 Jul;97(29):e11246

Metabolic Unit, Service of Neonatology. Department of Pediatrics. Hospital Clínico Universitario de Santiago, IDIS, CIBERER, ISCIII, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1097/MD.0000000000011246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086518PMC
July 2018

Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension.

Nefrologia 2018 May - Jun;38(3):333-335. Epub 2017 Jun 10.

Department of Pediatric Critical Care, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nefro.2017.03.019DOI Listing
April 2019

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

J Inherit Metab Dis 2013 Sep 22;36(5):841-7. Epub 2012 Nov 22.

Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-012-9565-zDOI Listing
September 2013

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.

J Child Neurol 2013 Nov 3;28(11):1531-1534. Epub 2012 Oct 3.

1Servei de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1177/0883073812460580DOI Listing
November 2013

Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.

Mol Genet Metab 2012 Jun 24;106(2):196-201. Epub 2012 Mar 24.

Sección de Errores Congénitos del Metabolismo-IBC, Servicio de Bioquímica y Genética Molecular, Hospital Clínic, CIBERER, IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2012.03.006DOI Listing
June 2012

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.

Pediatr Int 2011 Dec;53(6):985-9

Unit for Diagnosis and Treatment of Metabolic Diseases, Department of Paediatrics, University Hospital of Santiago, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1111/j.1442-200X.2011.03427.xDOI Listing
December 2011

Proteomic analysis in cerebrospinal fluid of patients with atypical nonketotic hyperglycinemia and pulmonary hypertension - A pilot study.

Proteomics Clin Appl 2009 Dec 7;3(12):1430-9. Epub 2009 Oct 7.

Unitat de Metabolopaties, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Spain.

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http://dx.doi.org/10.1002/prca.200800251DOI Listing
December 2009

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Neurosci Lett 2009 May 6;455(2):105-9. Epub 2009 Mar 6.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neulet.2009.03.011DOI Listing
May 2009

Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia.

Pediatr Neurol 2006 Feb;34(2):132-4

Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940500414
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http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.003DOI Listing
February 2006

Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.

Dev Med Child Neurol 2003 Jul;45(7):489-93

Secció de Neurologia Infantil, Hospital Universitari Vail d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1017/s0012162203000902DOI Listing
July 2003