Lista de obras - Célia Nogueira - Dominio Público Uruguay

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

scientific article published on 02 October 2016

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

artículo científico publicado en 2015

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

artículo científico publicado en 2012

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

scientific article published on 15 December 2005

Reply

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

artículo científico publicado en 2007

Syndromes associated with mitochondrial DNA depletion.

artículo científico publicado en 2014

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

artículo científico publicado en 2019

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients

artículo científico publicado en 1999

Lista de obras de Célia Nogueira

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy

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

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

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

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

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

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

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

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

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

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

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

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

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

Reply

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

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

Syndromes associated with mitochondrial DNA depletion.

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients

mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk