Lista de obras - Luísa Diogo - Dominio Público Uruguay

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Antenatal manifestations of mitochondrial disorders.

artículo científico publicado en 2013

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report

artículo científico publicado en 2007

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

artículo científico publicado en 2006

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

artículo científico publicado en 2013

Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease.

artículo científico publicado en 2009

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome

article

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

artículo científico publicado en 2009

Incidence of maple syrup urine disease in Portugal

artículo científico publicado en 2010

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients

artículo científico publicado en 2011

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

artículo científico publicado en 1997

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

artículo científico publicado en 2012

Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy

artículo científico publicado en 1996

Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution1H NMR spectroscopy

article

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association

artículo científico publicado en 2012

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

article

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

article

NMR Derivatives for Quantification of2H and13C‐Enrichment of Human Glucuronide from Metabolic Tracers

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

artículo científico publicado en 2013

Nonketotic hyperglycinemia: a cause of encephalopathy in children

artículo científico publicado en 2012

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

artículo científico publicado en 2008

Null mutations and lethal congenital form of glycogen storage disease type IV.

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

artículo científico publicado en 2009

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

artículo científico publicado en 2013

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency

artículo científico publicado en 2012

Quantification of hepatic transaldolase exchange activity and its effects on tracer measurements of indirect pathway flux in humans

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Skeletal complications in mucopolysaccharidosis VI patients: Case reports

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

artículo científico publicado en 2011

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders

artículo científico publicado en 2010

Lista de obras de Luísa Diogo

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Antenatal manifestations of mitochondrial disorders.

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease.

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman–Diamond syndrome

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

Incidence of maple syrup urine disease in Portugal

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients

L-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy

Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution1H NMR spectroscopy

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

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

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

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

NMR Derivatives for Quantification of2H and13C‐Enrichment of Human Glucuronide from Metabolic Tracers

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

Nonketotic hyperglycinemia: a cause of encephalopathy in children

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy

Null mutations and lethal congenital form of glycogen storage disease type IV.

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

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency

Quantification of hepatic transaldolase exchange activity and its effects on tracer measurements of indirect pathway flux in humans

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

Skeletal complications in mucopolysaccharidosis VI patients: Case reports

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

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

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders