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Orphanet Journal of Rare Diseases
|
April 27, 2017
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, et al.
American Journal of Hematology
|
June 23, 2015
Understanding the natural history of Gaucher disease
Pramod K Mistry, Nadia Belmatoug, Stephan vom Dahl, et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
|
February 15, 2018
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I
William M Pardridge, Ruben J Boado, Roberto Giugliani, et al.
Clinical Biochemistry
|
January 7, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting
Gabriela Pasqualim, Bruna Almeida Dos Santos, Roberto Giugliani, et al.
Jornal De Pediatria
|
September 2, 2008
Treatment of inborn errors of metabolism
Ida Vanessa Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani
Journal of Medical Screening
|
June 24, 2006
Prevalence of G6PD deficiency in newborns in the south of Brazil
Simone Castro, Raquel Weber, Vivian Dadalt, et al.
Journal of Community Genetics
|
May 27, 2015
The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent
Roberto Giugliani, Guilherme Baldo, Filippo Vairo, et al.
JIMD Reports
|
July 12, 2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
Gerald F Cox, Lorne A Clarke, Roberto Giugliani, et al.
Genetics and Molecular Biology
|
March 18, 2017
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 7, 2002
Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I
Jovana Mandelli, Alessandro Wajner, Ricardo Pires, et al.
Page
of 49
Search research articles
Search
Showing results (31-40 of 482) with videos related to
Sort By:
Page
of 49
Orphanet Journal of Rare Diseases
|
April 27, 2017
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, et al.
American Journal of Hematology
|
June 23, 2015
Understanding the natural history of Gaucher disease
Pramod K Mistry, Nadia Belmatoug, Stephan vom Dahl, et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
|
February 15, 2018
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I
William M Pardridge, Ruben J Boado, Roberto Giugliani, et al.
Clinical Biochemistry
|
January 7, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting
Gabriela Pasqualim, Bruna Almeida Dos Santos, Roberto Giugliani, et al.
Jornal De Pediatria
|
September 2, 2008
Treatment of inborn errors of metabolism
Ida Vanessa Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani
Journal of Medical Screening
|
June 24, 2006
Prevalence of G6PD deficiency in newborns in the south of Brazil
Simone Castro, Raquel Weber, Vivian Dadalt, et al.
Journal of Community Genetics
|
May 27, 2015
The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent
Roberto Giugliani, Guilherme Baldo, Filippo Vairo, et al.
JIMD Reports
|
July 12, 2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
Gerald F Cox, Lorne A Clarke, Roberto Giugliani, et al.
Genetics and Molecular Biology
|
March 18, 2017
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 7, 2002
Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I
Jovana Mandelli, Alessandro Wajner, Ricardo Pires, et al.
Page
of 49