Lista de obras - L Lacerda - Dominio Público Uruguay

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation

artículo científico publicado en 2015

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

artículo científico publicado en 2011

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

artículo científico publicado en 2014

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model

artículo científico publicado en 2005

Glycosaminoglycan storage disorders: a review

artículo científico publicado en 2011

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

artículo científico publicado en 1999

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis

scientific article published on 01 October 1993

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

article

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

artículo científico publicado en 2008

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

article

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

artículo científico publicado en 2006

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

artículo científico publicado en 2014

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

artículo científico publicado en 2012

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

scientific article published on 15 September 2020

Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease.

artículo científico publicado en 2002

Screening for Pompe disease in a Portuguese high risk population.

artículo científico publicado en 2017

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

artículo científico publicado en 2016

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

artículo científico publicado en 1994

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

artículo científico publicado en 1996

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

artículo científico publicado en 1993

Lista de obras de L Lacerda

Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

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

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

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model

Glycosaminoglycan storage disorders: a review

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients

Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient

Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease.

Screening for Pompe disease in a Portuguese high risk population.

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.