Lista de obras - D Quelhas - Dominio Público Uruguay

Analysis and visualization of chromosome information

artículo científico publicado en 2011

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families

artículo científico publicado en 1993

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

artículo científico publicado en 2011

Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations inPMM2

artículo científico publicado en 2006

Congenital disorders of glycosylation with neonatal presentation

artículo científico publicado en 2014

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

artículo científico publicado en 2006

De Barsy syndrome and ATP6V0A2-CDG

artículo científico publicado en 2010

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis

artículo científico publicado en 2003

Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

artículo científico publicado en 2012

Galactose Epimerase Deficiency: Expanding the Phenotype.

artículo científico publicado en 2017

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

scientific article published on 03 June 2009

Histogram-based DNA analysis for the visualization of chromosome, genome and species information

artículo científico publicado en 2011

Improving the in silico assessment of pathogenicity for compensated variants.

artículo científico publicado en 2016

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

artículo científico publicado en 2019

MAN1B1 deficiency: an unexpected CDG-II

artículo científico publicado en 2013

Multidimensional scaling applied to histogram-based DNA analysis.

artículo científico publicado en 2012

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

artículo científico publicado en 2018

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

artículo científico publicado en 2017

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

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

scientific article published on 15 December 2005

Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects

artículo científico publicado en 2010

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

artículo científico publicado en 2018

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

artículo científico publicado en 2011

Renal involvement in PMM2-CDG, a mini-review.

artículo científico publicado en 2017

SLC37A4-CDG: Second patient

artículo científico publicado en 2021

Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease

artículo científico publicado en 2007

Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice.

artículo científico publicado en 2005

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

artículo científico publicado en 2011

Wavelet analysis of human DNA.

artículo científico publicado en 2011

X-linked adrenoleukodystrophy and haemophilia A in the same kindred

artículo científico publicado en 1993

X-linked adrenoleukodystrophy in patients with idiopathic addison disease

artículo científico publicado en 1994

Lista de obras de D Quelhas

Analysis and visualization of chromosome information

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families

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

Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations inPMM2

Congenital disorders of glycosylation with neonatal presentation

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

De Barsy syndrome and ATP6V0A2-CDG

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis

Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

Galactose Epimerase Deficiency: Expanding the Phenotype.

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Histogram-based DNA analysis for the visualization of chromosome, genome and species information

Improving the in silico assessment of pathogenicity for compensated variants.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

MAN1B1 deficiency: an unexpected CDG-II

Multidimensional scaling applied to histogram-based DNA analysis.

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

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

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

Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Renal involvement in PMM2-CDG, a mini-review.

SLC37A4-CDG: Second patient

Screening Using Serum Percentage of Carbohydrate-Deficient Transferrin for Congenital Disorders of Glycosylation in Children with Suspected Metabolic Disease

Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice.

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

Wavelet analysis of human DNA.

X-linked adrenoleukodystrophy and haemophilia A in the same kindred

X-linked adrenoleukodystrophy in patients with idiopathic addison disease