Lista de obras - Ester Quintana - Dominio Público Uruguay

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

artículo científico publicado en 2009

Analysis of miRNA signatures in CSF identifies upregulation of miR-21 and miR-146a/b in patients with multiple sclerosis and active lesions

artículo científico publicado en 2019

Assessment of the reproducibility of oligoclonal IgM band detection for its application in daily clinical practice

artículo científico publicado en 2014

Cognitive impairment in early stages of multiple sclerosis is associated with high cerebrospinal fluid levels of chitinase 3-like 1 and neurofilament light chain

artículo científico publicado en 2018

Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

artículo científico publicado en 2009

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

artículo científico publicado en 2010

FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.

artículo científico publicado en 2009

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form

artículo científico publicado en 2008

Lipid-specific immunoglobulin M bands in cerebrospinal fluid are associated with a reduced risk of developing progressive multifocal leukoencephalopathy during treatment with natalizumab

artículo científico publicado en 2015

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

artículo científico publicado en 2012

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

artículo científico publicado en 2009

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Radiologically isolated syndrome: targeting miRNAs as prognostic biomarkers

scientific article published on 08 December 2020

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

artículo científico publicado en 2008

Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis

artículo científico publicado en 2007

Secondary disorders of glycosylation in inborn errors of fructose metabolism

artículo científico publicado en 2009

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

artículo científico publicado en 2011

miRNAs in cerebrospinal fluid identify patients with MS and specifically those with lipid-specific oligoclonal IgM bands

artículo científico publicado en 2017

Lista de obras de Ester Quintana

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

Analysis of miRNA signatures in CSF identifies upregulation of miR-21 and miR-146a/b in patients with multiple sclerosis and active lesions

Assessment of the reproducibility of oligoclonal IgM band detection for its application in daily clinical practice

Cognitive impairment in early stages of multiple sclerosis is associated with high cerebrospinal fluid levels of chitinase 3-like 1 and neurofilament light chain

Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form

Lipid-specific immunoglobulin M bands in cerebrospinal fluid are associated with a reduced risk of developing progressive multifocal leukoencephalopathy during treatment with natalizumab

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

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

Radiologically isolated syndrome: targeting miRNAs as prognostic biomarkers

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis

Secondary disorders of glycosylation in inborn errors of fructose metabolism

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

miRNAs in cerebrospinal fluid identify patients with MS and specifically those with lipid-specific oligoclonal IgM bands