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R Giugliani

Showing results (131-140 of 164) with videos related to

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Molecular Genetics and Metabolism|March 12, 2013
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effectsR Giugliani, S Waldek, D P Germain, et al.
Biochimica Et Biophysica Acta|January 21, 2004
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophyC R Vargas, M Wajner, L R Sirtori, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic strokeL Pinto, P Zen, R Rosa, et al.
Clinical Genetics|July 16, 2003
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian familyI Schwartz, L R Silva, S Leistner, et al.
Reproductive Toxicology (Elmsford, N.Y.)|April 23, 1999
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled studyL Schüler, A Pastuszak, T V Sanseverino, et al.
Jornal De Pediatria|September 1, 1995
[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy]L B Jardim, C S Martins, R F Pires, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 29, 2016
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysisG S Ribas, H M Souza, J de Mari, et al.
JIMD Reports|February 23, 2013
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)C R D C Quaio, H Grinberg, M L C Vieira, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patientsM F G Petry, K Nonemacher, J C Sebben, et al.
Journal of Inherited Metabolic Disease|July 15, 2009
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)S A Jones, Z Almássy, M Beck, et al.
Pageof 17

Showing results (131-140 of 164) with videos related to

Sort By:
Pageof 17
Molecular Genetics and Metabolism|March 12, 2013
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effectsR Giugliani, S Waldek, D P Germain, et al.
Biochimica Et Biophysica Acta|January 21, 2004
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophyC R Vargas, M Wajner, L R Sirtori, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic strokeL Pinto, P Zen, R Rosa, et al.
Clinical Genetics|July 16, 2003
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian familyI Schwartz, L R Silva, S Leistner, et al.
Reproductive Toxicology (Elmsford, N.Y.)|April 23, 1999
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled studyL Schüler, A Pastuszak, T V Sanseverino, et al.
Jornal De Pediatria|September 1, 1995
[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy]L B Jardim, C S Martins, R F Pires, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 29, 2016
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysisG S Ribas, H M Souza, J de Mari, et al.
JIMD Reports|February 23, 2013
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)C R D C Quaio, H Grinberg, M L C Vieira, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patientsM F G Petry, K Nonemacher, J C Sebben, et al.
Journal of Inherited Metabolic Disease|July 15, 2009
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS)S A Jones, Z Almássy, M Beck, et al.
Pageof 17