about
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristicsA frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.MAN1B1 deficiency: an unexpected CDG-IIMethionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands.Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.Liver transplantation prevents progressive neurological impairment in argininemiaIncidence of maple syrup urine disease in Portugal.D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.Outcome of three cases of untreated maternal glutaric aciduria type I.Symmetric asymptomatic reticular lesions of the skin.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools.The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients.Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyCardiovascular manifestations in Marfan syndromeLiver transplantation in a case of argininaemiaGlycogen storage disease type IV presenting as hydrops fetalisMaple syrup disease presenting as paroxysmal dystoniaTYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Esmeralda G Martins
@nl
Esmeralda G Martins
@sl
Esmeralda G. Martins
@en
Esmeralda G. Martins
@es
type
label
Esmeralda G Martins
@nl
Esmeralda G Martins
@sl
Esmeralda G. Martins
@en
Esmeralda G. Martins
@es
altLabel
Martins E
@en
prefLabel
Esmeralda G Martins
@nl
Esmeralda G Martins
@sl
Esmeralda G. Martins
@en
Esmeralda G. Martins
@es
P106
P1153
7103314876
P31
P496
0000-0002-9247-9391