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Annals of Internal Medicine
|
December 21, 2006
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
Maryam Banikazemi, Jan Bultas, Stephen Waldek, et al.
Molecular Genetics and Metabolism
|
July 6, 2023
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
Nishitha R Pillai, Noelle Andrea V Fabie, Tory V Kaye, et al.
Molecular Genetics and Metabolism
|
February 18, 2020
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII
Raymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Clinical Genetics
|
June 14, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Lorne A Clarke, Roberto Giugliani, Nathalie Guffon, et al.
Molecular Genetics and Metabolism
|
August 27, 2020
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]
Raymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Molecular Genetics and Metabolism Reports
|
April 15, 2021
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
Michael J Przybilla, Christine Stewart, Timothy W Carlson, et al.
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Lancet (London, England)
|
August 19, 2007
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
Harvey L Levy, Andrzej Milanowski, Anupam Chakrapani, et al.
Molecular Genetics and Metabolism
|
January 13, 2019
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB
Chester B Whitley, Suresh Vijay, Bert Yao, et al.
The Journal of Gene Medicine
|
April 5, 2007
Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon-mediated gene delivery: implications for non-viral gene therapy of mucopolysaccharidoses
Elena L Aronovich, Jason B Bell, Lalitha R Belur, et al.
Page
of 12
Search research articles
Search
Showing results (81-90 of 116) with videos related to
Sort By:
Page
of 12
Annals of Internal Medicine
|
December 21, 2006
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
Maryam Banikazemi, Jan Bultas, Stephen Waldek, et al.
Molecular Genetics and Metabolism
|
July 6, 2023
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
Nishitha R Pillai, Noelle Andrea V Fabie, Tory V Kaye, et al.
Molecular Genetics and Metabolism
|
February 18, 2020
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII
Raymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Clinical Genetics
|
June 14, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
Lorne A Clarke, Roberto Giugliani, Nathalie Guffon, et al.
Molecular Genetics and Metabolism
|
August 27, 2020
Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]
Raymond Y Wang, José Francisco da Silva Franco, Jaime López-Valdez, et al.
Molecular Genetics and Metabolism Reports
|
April 15, 2021
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis
Michael J Przybilla, Christine Stewart, Timothy W Carlson, et al.
Pediatrics
|
July 3, 2003
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
Dietrich Matern, Miao He, Susan A Berry, et al.
Lancet (London, England)
|
August 19, 2007
Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
Harvey L Levy, Andrzej Milanowski, Anupam Chakrapani, et al.
Molecular Genetics and Metabolism
|
January 13, 2019
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB
Chester B Whitley, Suresh Vijay, Bert Yao, et al.
The Journal of Gene Medicine
|
April 5, 2007
Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon-mediated gene delivery: implications for non-viral gene therapy of mucopolysaccharidoses
Elena L Aronovich, Jason B Bell, Lalitha R Belur, et al.
Page
of 12