Concepedia

Nicole Ruas Guarany

NR

5

Publications

86

Citations

5

H-Index

2012

Active since

Affiliations

Universidade Federal do Rio Grande do Sul(Current)

Universidade Federal de Pelotas

Hospital de Clínicas de Porto Alegre

Nicole Ruas Guarany is an author at Universidade Federal do Rio Grande do Sul specializing in medicine, genetic counseling, and clinical genetics.

Top concepts

MedicineGeneticsGenomicsPediatricsFamily MedicineQuality Of LifeClinical GeneticsMolecular BiologyGenetic CounselingMolecular Genetics

Publications per year

2012–2020

5

Publications

5

Functional capacity evaluation of patients with mucopolysaccharidosis

Nicole Ruas Guarany, Ida Vanessa Döederlein Schwartz, Fábio Coelho Guarany et al. · Journal of Pediatric Rehabilitation Medicine · 2012 · 33 citations

Mucopolysaccharidosis

Nicole Ruas Guarany, Ana Paula Vanz, Matheus Vernet Machado Bressan Wilke et al. · Journal of Inborn Errors of Metabolism and Screening · 2015 · 20 citations · Full text

Quality Of Life, Family Medicine, Life Assessment +8

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

Renata Voltolini Velho, Nataniel Floriano Ludwig, Taciane Alegra et al. · Journal of Human Genetics · 2016 · 13 citations · Full text

Vivo Glcnac-1-phosphotransferase, Genetic Disorder, Genetics +10

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Taciane Alegra, Fernanda Sperb‐Ludwig, Nicole Ruas Guarany et al. · Journal of Pediatric Genetics · 2019 · 10 citations · Full text

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel et al. · Disease Models & Mechanisms · 2020 · 10 citations · Full text

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