Concepedia

Paulina Mabe

PM

7

Publications

489

Citations

7

H-Index

2004

Active since

Affiliations

Universidade Federal do Rio Grande do Sul(Current)

Hospital de Clínicas de Porto Alegre

National Institute on Population Medical Genetics

Universidade do Estado do Rio de Janeiro

Fundação Oswaldo Cruz

Paulina Mabe is an author at Universidade Federal do Rio Grande do Sul specializing in pathology, medicine, and diagnosis.

Top concepts

Publications per year

2004–2023

7

Publications

7

A clinical study of 77 patients with mucopolysaccharidosis type II

Ida Vanessa Döederlein Schwartz, Márcia Gonçalves Ribeiro, João Gustavo Fiani Bacila Mota et al. · Acta Paediatrica · 2007 · 127 citations

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

A. C. M. Azevedo, IV Schwartz, Luciane Kalakun et al. · Clinical Genetics · 2004 · 115 citations

, , +17

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Melissa Wasserstein, Robin Lachmann, Carla E. M. Hollak et al. · Genetics in Medicine · 2022 · 91 citations · Full text

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests

Paulina Mabe, A. Valiente, Vivian Vialat Soto et al. · Clinica Chimica Acta · 2004 · 59 citations · Full text

, , +7

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

Ana Carolina Brusius‐Facchin, Ida Vanessa Döederlein Schwartz, Constantin Zimmer et al. · Molecular Genetics and Metabolism · 2013 · 46 citations · Full text

, , +3

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