Search filters

List of works by Esmeralda G. Martins

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

scientific article

Cardiovascular manifestations in Marfan syndrome

scientific article published on 01 December 2001

Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools

scientific article published on 12 January 2017

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

scientific article published on 6 March 2014

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients

scientific article published on 14 February 2011

D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.

scientific article published on 24 January 2015

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

scientific article published on 10 October 2013

Glycogen storage disease type IV presenting as hydrops fetalis

scientific article published on 01 May 1999

Incidence of maple syrup urine disease in Portugal

scientific article published on 22 April 2010

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

scientific article published on 25 August 2015

Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

scientific article published on 01 January 1996

Liver transplantation in a case of argininaemia

scientific article published on 01 December 2001

Liver transplantation prevents progressive neurological impairment in argininemia

scientific article published on 05 April 2013

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

scientific article published on 5 April 2013

MAN1B1 deficiency: an unexpected CDG-II

scientific article

Maple syrup disease presenting as paroxysmal dystonia

scientific article published on 01 November 2004

Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination

scientific article

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 structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

scientific article

Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)

article

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

scientific article published on 10 July 2013

Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.

scientific article published on 12 April 2017

Outcome of three cases of untreated maternal glutaric aciduria type I.

scientific article published on 28 July 2007

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

scientific article

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

scientific article

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics

scientific article (publication date: June 1999)

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

scientific article

Symmetric asymptomatic reticular lesions of the skin

scientific article published in October 2017

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

scientific article published on 05 June 2020

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

scientific article

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.

scientific article published in March 2000

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

scientific article

Paulina is supported by:

About Paulina

Help