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Can Ficicioglu

Showing results (61-70 of 110) with videos related to

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Journal of Inherited Metabolic Disease|February 19, 2026
Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-RegistryShoshana Revel-Vilk, Patrick Deegan, Debra Day-Salvatore, et al.
Clinical Chemistry|February 17, 2019
Increased Clinical Sensitivity and Specificity of Plasma Protein <i>N</i>-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass SpectrometryJie Chen, Xueli Li, Andrew Edmondson, et al.
Biochimica Et Biophysica Acta|February 8, 2011
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyToshiyuki Fukao, Jörn Oliver Sass, Petri Kursula, et al.
The Journal of Pediatrics|December 24, 2018
Early Indicators of Creatine Transporter DeficiencyJudith S Miller, Rebecca P Thomas, Amanda Bennett, et al.
International Journal of Neonatal Screening|August 25, 2020
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn ScreeningJessica R C Priestley, Hana Alharbi, Katharine Press Callahan, et al.
International Journal of Neonatal Screening|March 26, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn ScreenHayley A Ron, Owen Kane, Rose Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance inductionCindy Li, Ankit K Desai, Punita Gupta, et al.
Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.
Orphanet Journal of Rare Diseases|February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe diseaseJennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.
Pageof 11

Showing results (61-70 of 110) with videos related to

Sort By:
Pageof 11
Journal of Inherited Metabolic Disease|February 19, 2026
Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-RegistryShoshana Revel-Vilk, Patrick Deegan, Debra Day-Salvatore, et al.
Clinical Chemistry|February 17, 2019
Increased Clinical Sensitivity and Specificity of Plasma Protein <i>N</i>-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass SpectrometryJie Chen, Xueli Li, Andrew Edmondson, et al.
Biochimica Et Biophysica Acta|February 8, 2011
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyToshiyuki Fukao, Jörn Oliver Sass, Petri Kursula, et al.
The Journal of Pediatrics|December 24, 2018
Early Indicators of Creatine Transporter DeficiencyJudith S Miller, Rebecca P Thomas, Amanda Bennett, et al.
International Journal of Neonatal Screening|August 25, 2020
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn ScreeningJessica R C Priestley, Hana Alharbi, Katharine Press Callahan, et al.
International Journal of Neonatal Screening|March 26, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn ScreenHayley A Ron, Owen Kane, Rose Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2025
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trialCan Ficicioglu, Janet A Thomas, Jaya Ganesh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance inductionCindy Li, Ankit K Desai, Punita Gupta, et al.
Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.
Orphanet Journal of Rare Diseases|February 3, 2018
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe diseaseJennifer M Kwon, Dietrich Matern, Joanne Kurtzberg, et al.
Pageof 11