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Biomolecules
|
July 30, 2020
Precision Medicine for Lysosomal Disorders
Filippo Pinto E Vairo, Diana Rojas Málaga, Francyne Kubaski, et al.
JIMD Reports
|
November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI
Denise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.
Molecular Genetics and Metabolism Reports
|
August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
Daniel G Bichet, Roser Torra, Eric Wallace, et al.
Journal of Clinical Medicine
|
July 29, 2025
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review
Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, et al.
Journal of the Neurological Sciences
|
September 16, 2003
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease
Irenio Gomes, Daniel B Nora, Jefferson Becker, et al.
Pediatrics
|
October 4, 2006
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
Gustavo H B Maegawa, Tracy Stockley, Michael Tropak, et al.
Cytotherapy
|
April 5, 2012
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice
Guilherme Baldo, Fabiana Quoos Mayer, Barbara Martinelli, et al.
Revista Panamericana De Salud Publica = Pan American Journal of Public Health
|
May 17, 2019
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean
Ignacio Zarante, Paula Hurtado-Villa, Salimah R Walani, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
March 23, 2006
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion
Leonardo Vedolin, Carolina Fischinger Moura de Souza, Rogério Schwark Silveira, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|
September 15, 2011
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)
Joe T R Clarke, Roberto Giugliani, Gere Sunder-Plassmann, et al.
Page
of 49
Search research articles
Search
Showing results (191-200 of 482) with videos related to
Sort By:
Page
of 49
Biomolecules
|
July 30, 2020
Precision Medicine for Lysosomal Disorders
Filippo Pinto E Vairo, Diana Rojas Málaga, Francyne Kubaski, et al.
JIMD Reports
|
November 30, 2015
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI
Denise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F de Souza, et al.
Molecular Genetics and Metabolism Reports
|
August 17, 2021
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
Daniel G Bichet, Roser Torra, Eric Wallace, et al.
Journal of Clinical Medicine
|
July 29, 2025
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review
Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, et al.
Journal of the Neurological Sciences
|
September 16, 2003
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease
Irenio Gomes, Daniel B Nora, Jefferson Becker, et al.
Pediatrics
|
October 4, 2006
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
Gustavo H B Maegawa, Tracy Stockley, Michael Tropak, et al.
Cytotherapy
|
April 5, 2012
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice
Guilherme Baldo, Fabiana Quoos Mayer, Barbara Martinelli, et al.
Revista Panamericana De Salud Publica = Pan American Journal of Public Health
|
May 17, 2019
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean
Ignacio Zarante, Paula Hurtado-Villa, Salimah R Walani, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
March 23, 2006
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion
Leonardo Vedolin, Carolina Fischinger Moura de Souza, Rogério Schwark Silveira, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|
September 15, 2011
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)
Joe T R Clarke, Roberto Giugliani, Gere Sunder-Plassmann, et al.
Page
of 49