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Joan Keutzer

Showing results (1-10 of 32) with videos related to

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Molecular Genetics and Metabolism|September 19, 2013
A new assay for fast, reliable CRIM status determination in infantile-onset Pompe diseaseZhaohui Wang, Patricia Okamoto, Joan Keutzer
Rheumatology (Oxford, England)|January 3, 2012
Diagnosis of the mucopolysaccharidosesThomas J A Lehman, Nicole Miller, Becky Norquist, et al.
American Journal of Medical Genetics. Part A|September 3, 2013
Timing of diagnosis of patients with Pompe disease: data from the Pompe registryPriya S Kishnani, Hernán M Amartino, Christopher Lindberg, et al.
Drug Safety|January 12, 2022
Use of Identical INN "Imiglucerase" for Different Drug Products: Impact Analysis of Adverse Events in a Proprietary Global Safety DatabaseSo-Fai Tsang, Shirali Pandya, Kristina Barakov, et al.
Molecular Genetics and Metabolism|August 3, 2014
Methods of diagnosis of patients with Pompe disease: Data from the Pompe RegistryPriya S Kishnani, Hernán M Amartino, Christopher Lindberg, et al.
Clinical Chemistry|August 16, 2008
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometryAngéla Dajnoki, Adolf Mühl, György Fekete, et al.
Molecular Genetics and Metabolism|January 15, 2014
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patientsWei-Lien Chuang, Joshua Pacheco, Samantha Cooper, et al.
Molecular Genetics and Metabolism|April 22, 2023
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher diseasePetra Oliva, Markus Schwarz, Thomas P Mechtler, et al.
Molecular Genetics and Metabolism|September 25, 2010
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseYin-Hsiu Chien, Petra Olivova, Xiaokui Kate Zhang, et al.
The Journal of Pediatrics|March 8, 2013
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometryC Ronald Scott, Susan Elliott, Norman Buroker, et al.
Pageof 4

Showing results (1-10 of 32) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|September 19, 2013
A new assay for fast, reliable CRIM status determination in infantile-onset Pompe diseaseZhaohui Wang, Patricia Okamoto, Joan Keutzer
Rheumatology (Oxford, England)|January 3, 2012
Diagnosis of the mucopolysaccharidosesThomas J A Lehman, Nicole Miller, Becky Norquist, et al.
American Journal of Medical Genetics. Part A|September 3, 2013
Timing of diagnosis of patients with Pompe disease: data from the Pompe registryPriya S Kishnani, Hernán M Amartino, Christopher Lindberg, et al.
Drug Safety|January 12, 2022
Use of Identical INN "Imiglucerase" for Different Drug Products: Impact Analysis of Adverse Events in a Proprietary Global Safety DatabaseSo-Fai Tsang, Shirali Pandya, Kristina Barakov, et al.
Molecular Genetics and Metabolism|August 3, 2014
Methods of diagnosis of patients with Pompe disease: Data from the Pompe RegistryPriya S Kishnani, Hernán M Amartino, Christopher Lindberg, et al.
Clinical Chemistry|August 16, 2008
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometryAngéla Dajnoki, Adolf Mühl, György Fekete, et al.
Molecular Genetics and Metabolism|January 15, 2014
Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patientsWei-Lien Chuang, Joshua Pacheco, Samantha Cooper, et al.
Molecular Genetics and Metabolism|April 22, 2023
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher diseasePetra Oliva, Markus Schwarz, Thomas P Mechtler, et al.
Molecular Genetics and Metabolism|September 25, 2010
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry diseaseYin-Hsiu Chien, Petra Olivova, Xiaokui Kate Zhang, et al.
The Journal of Pediatrics|March 8, 2013
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometryC Ronald Scott, Susan Elliott, Norman Buroker, et al.
Pageof 4