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Author Details

Dulce Quelhas
Unidade de Bioquimica Genetica, Centro Hospitalar Universitario do Porto
1993
46
17
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36451346Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?J Inherit Metab Dis2023
37711123Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.Endocr Metab Immune Disord Drug Targets2023
37711120Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.Endocr Metab Immune Disord Drug Targets2023
37105015Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.Parkinsonism Relat Disord2023
35317090Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.J Med Cases2022
32681750International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.J Inherit Metab Dis2021
33728255SLC37A4-CDG: Second patient.JIMD Rep2021
33552911SLC35A2-CDG: Novel variant and review.Mol Genet Metab Rep2021
34863624Assessing the effects of PMM2 variants on protein stability.Mol Genet Metab2021
34828263Genotype-Phenotype Correlations in PMM2-CDG.Genes (Basel)2021
34040193Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genet Med2021
34140212Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Mol Genet Metab2021
32266963Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.J Inherit Metab Dis2020
32595772Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning <i>PMM2</i> Gene Pleiotropy.Eur Endocrinol2020
32931663NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.Mol Genet Genomic Med2020
30829006Genotype-phenotype correlations and BH<sub>4</sub> estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.Mol Genet Genomic Med2019
29923091RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.JIMD Rep2019
30740725International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.J Inherit Metab Dis2019
29229467Renal involvement in PMM2-CDG, a mini-review.Mol Genet Metab2018
29749107Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.Mol Genet Genomic Med2018
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
28247339Galactose Epimerase Deficiency: Expanding the Phenotype.JIMD Rep2017
26833332CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.Am J Hum Genet2016
27703146Improving the in silico assessment of pathogenicity for compensated variants.Eur J Hum Genet2016
24739649Congenital disorders of glycosylation with neonatal presentation.BMJ Case Rep2014
24348268MAN1B1 deficiency: an unexpected CDG-II.PLoS Genet2013
21255007Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Clin Genet2012
23137570Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome.Mol Genet Metab2012
22919286Multidimensional scaling applied to histogram-based DNA analysis.Comp Funct Genomics2012
22001546Analysis and visualization of chromosome information.Gene2012
21398672Histogram-based DNA analysis for the visualization of chromosome, genome and species information.Bioinformatics2011
23430840Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).JIMD Rep2011
23430838The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.JIMD Rep2011
21672622Wavelet analysis of human DNA.Genomics2011
20010974De Barsy syndrome and ATP6V0A2-CDG.Eur J Hum Genet2010
20630811Quantitative analysis of five sterols in amniotic fluid by GC-MS: application to the diagnosis of cholesterol biosynthesis defects.J Chromatogr B Analyt Technol Biomed Life Sci2010
19494034Golgi function and dysfunction in the first COG4-deficient CDG type II patient.Hum Mol Genet2009
18024528Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.Clin Chem2008
17166182Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.Ann Hum Genet2007
16343971Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card.Mol Genet Metab2006
16537452Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.Proc Natl Acad Sci U S A2006
15588925Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice.Toxicology2005
12773475Detailed 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.Glycobiology2003
7957408X-linked adrenoleukodystrophy in patients with idiopathic Addison disease.Eur J Pediatr1994
7609460X-linked adrenoleukodystrophy and haemophilia A in the same kindred.J Inherit Metab Dis1993
8387613Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families.J Inherit Metab Dis1993
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Collaborators

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Co-authored papers 14
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Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 11
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CNRS, Universite de Lille
Co-authored papers 6
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Co-authored papers 6
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Co-authored papers 3
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Co-authored papers 3
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Center for Human Genetics
Co-authored papers 3
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 2
Paula Garcia
Hospital Pediatrico de Coimbra
Co-authored papers 2
Hudson H Freeze
Co-authored papers 2
Yoshinao Wada
Osaka Women's and Children's Hospital
Co-authored papers 2
Janine Reunert
University Children's Hospital Munster
Co-authored papers 2
Delphine Borgel
Co-authored papers 2
Valérie Race
Co-authored papers 2
Kimiyo Raymond
Co-authored papers 2
Tiffany Pascreau
Co-authored papers 2
Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 2
Erika Souche
Center for Human Genetics
Co-authored papers 2
Andrew C Edmondson
Co-authored papers 2
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 1
Matthew Mort
Co-authored papers 1
Stefanie J??ger
Institute of Molecular Biosciences, Goethe University Frankfurt
Co-authored papers 1
Susana Nobre
Centro Hospitalar e Universitario de Coimbra
Co-authored papers 1
Pauline M Rudd
Co-authored papers 1
Magda Cannata Serio
INSERM UMR3, Institut IMAGINE
Co-authored papers 1
Maria Clara Guida
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 1
Julien H Park
Umea University
Co-authored papers 1
Jean-Fran??ois Benoist
Hopital Universitaire Necker-Enfants Malades, Assistance Publique - Hopitaux de Paris
Co-authored papers 1
Thomas D Bird
University of Washington School of Medicine
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Peter M Krawitz
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