List of works - Laura Vilarinho

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

scientific article published on 3 September 2016

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

scientific article published on 20 March 2014

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

scientific article

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

scientific article published on 6 March 2014

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

scientific article published in March 2011

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.

scientific article published on 27 January 2017

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening ⬇️

scientific article published on April 13, 2012

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.

scientific article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

scientific article published on 25 September 2013

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

scientific article published in December 2013

Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria

scientific article published on 24 July 2019

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION

scientific article published on 29 October 2018

LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family

scientific article published on 02 October 2016

Late-onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations

scientific article published on 17 October 2018

Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance

scientific article published on 25 March 2015

Liver transplantation prevents progressive neurological impairment in argininemia

scientific article published on 05 April 2013

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

scientific article published in December 2012

Mitochondria proteome profiling: a comparative analysis between gel- and gel-free approaches.

scientific article published on 22 April 2013

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

scientific article published on 21 January 2020

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency

scientific article published on 01 January 2019

Molecular basis of Leigh syndrome: a current look

scientific article published on 29 January 2020

Molecular picture of cobalamin C/D defects before and after newborn screening era.

scientific article published on June 2016

Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila

scientific article

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

scientific article published on 15 September 2020

National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia

scientific article published on 01 March 1992

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

scientific article

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

scientific article published on 18 October 2018

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

scientific article published on 28 March 2013

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations

scientific article published on 07 May 2011

Reply

scientific article published on 12 April 2017

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

scientific article

Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.

scientific article published on 06 August 2013

Syndromes associated with mitochondrial DNA depletion.

scientific article published on 03 April 2014

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

scientific article published on 05 June 2020

The mitochondrial A3243G mutation presenting as severe cardiomyopathy ⬇️

scientific article published on July 1, 1997

List of works by Laura Vilarinho

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.

Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening ⬇️

Enhanced interpretation of newborn screening results without analyte cutoff values.

Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION

LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family

Late-onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations

Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance

Liver transplantation prevents progressive neurological impairment in argininemia

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Mitochondria proteome profiling: a comparative analysis between gel- and gel-free approaches.

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency

Molecular basis of Leigh syndrome: a current look

Molecular picture of cobalamin C/D defects before and after newborn screening era.

Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations

Reply

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.

Syndromes associated with mitochondrial DNA depletion.

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

The mitochondrial A3243G mutation presenting as severe cardiomyopathy ⬇️