List of works - Célia Nogueira

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

scientific article published on 19 August 2007

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

scientific article published on 20 March 2014

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

scientific article published on 27 January 2017

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

scientific article published on 23 January 2007

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

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

scientific article published on 25 March 2015

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

scientific article published in December 2012

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

scientific article published on February 2012

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

scientific article published on 01 January 2019

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

scientific article published on 25 September 2011

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

scientific article published on June 2016

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

scientific article

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

scientific article published on 28 March 2013

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

scientific article published on 15 December 2005

Reply

scientific article published on 12 April 2017

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

scientific article published on 06 August 2013

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