Isaura Ribeiro - Concepedia

Author

Isaura Ribeiro

Universidade do Porto ORCID

Also Known As

I. Ribeiro, Isadora Rocha Ribeiro, Isaura Duarte Ribeiro, Isaura Ribeiro, Ivan Paz Ribeiro, Ribeiro, Isaura

Publications

685

Citations

H-Index

Concepts

All Affiliations

Universidade do Porto Centro de Genética Clínica Centro Hospitalar do Porto National Institute of Health Dr. Ricardo Jorge Hospital de Santo António

About

Isaura Ribeiro is an author at Universidade do Porto specializing in medicine, pathology, and pathogenesis.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	555
2	Molecular Biology	2	2	115
3	Cell Biology	1	1	104
4	Epidemiology	1	1	347
5	Microbiology	1	1	33

Isaura Ribeiro

Publications

676

Citations

H-Index

Page 1

	Year	Citations
Prevalence of lysosomal storage diseases in Portugal Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos, European Journal of Human Genetics Lysosomal Storage DiseasesMendelian DisorderGenetic DisorderPathogenesisLymphatic Filariasis	2003	347
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations Isaura Ribeiro, Ana Marcão, Olga Amaral, Human Genetics Npc1 MutationsPathogenesisMolecular BiologyPathologyMedicine	2001	104
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed, Molecular Genetics and Metabolism	2014	56
Isolation, purification and characterization of glycosaminoglycans in the fluids of the mollusc Anodonta cygnea Manuel Lopes‐Lima, Isaura Ribeiro, Rui Pinto, Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology BioanalysisGlycobiologyPolysaccharideCarbohydrate-protein InteractionMicrobiology	2005	33
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene Mariana Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro, Molecular Genetics and Metabolism Acid Ceramidase DeficiencyGenetic DisorderGeneticsPathogenesisInherited Metabolic Disease	2013	30
Mutation analysis of the <i><scp>PAH</scp></i> gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Molecular Genetics & Genomic Medicine	2018	18
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience Dulce Quelhas, Esmeralda Martins, Luı́sa Azevedo, The Journal of Pediatrics GlycoproteomicsGenetic DisorderInherited Metabolic DiseaseGlycobiologyPediatrics	2020	17
<i>NPC1</i> silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Molecular Genetics & Genomic Medicine	2020	15
Unverricht–Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene Eugénia Pinto, Joel Freitas, Ana Joana Duarte, Epilepsy Research Genetic DisorderMedicineGeneticsPathologyMolecular Genetics	2011	13
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA Tatiane Grazieli Hammerschmidt, Marisa Encarnação, Jéssica Lamberty Faverzani, Archives of Biochemistry and Biophysics	2023	12

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