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Can Ficicioglu

Showing results (51-60 of 110) with videos related to

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JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.
International Journal of Neonatal Screening|September 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening CohortsÉliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, et al.
JIMD Reports|May 12, 2021
[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesisCan Ficicioglu, Didem Demirbas, Britt Derks, et al.
Orphanet Journal of Rare Diseases|August 16, 2019
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapyJennifer L Cohen, Jessica Burfield, Karen Valdez-Gonzalez, et al.
Molecular Genetics and Metabolism|November 4, 2008
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screeningCan Ficicioglu, Nina Thomas, Claire Yager, et al.
Molecular Genetics and Metabolism|December 23, 2015
Low bone mineral density is a common finding in patients with homocystinuriaDavid R Weber, Curtis Coughlin, Jill L Brodsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experienceRebecca C Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, et al.
Fertility and Sterility|July 2, 2011
Ovarian function in Duarte galactosemiaJennifer R Badik, Uriel Castañeda, Tyler J Gleason, et al.
Insights Into Imaging|July 11, 2019
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvementAndrew J Degnan, Victor M Ho-Fung, Rebecca C Ahrens-Nicklas, et al.
American Journal of Medical Genetics. Part A|August 7, 2025
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature ReviewRana Aljaberi, Lindsay Romo, Reuven Zev Cohen, et al.
Pageof 11

Showing results (51-60 of 110) with videos related to

Sort By:
Pageof 11
JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.
International Journal of Neonatal Screening|September 22, 2025
Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening CohortsÉliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, et al.
JIMD Reports|May 12, 2021
[<sup>13</sup>C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesisCan Ficicioglu, Didem Demirbas, Britt Derks, et al.
Orphanet Journal of Rare Diseases|August 16, 2019
Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapyJennifer L Cohen, Jessica Burfield, Karen Valdez-Gonzalez, et al.
Molecular Genetics and Metabolism|November 4, 2008
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screeningCan Ficicioglu, Nina Thomas, Claire Yager, et al.
Molecular Genetics and Metabolism|December 23, 2015
Low bone mineral density is a common finding in patients with homocystinuriaDavid R Weber, Curtis Coughlin, Jill L Brodsky, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experienceRebecca C Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, et al.
Fertility and Sterility|July 2, 2011
Ovarian function in Duarte galactosemiaJennifer R Badik, Uriel Castañeda, Tyler J Gleason, et al.
Insights Into Imaging|July 11, 2019
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvementAndrew J Degnan, Victor M Ho-Fung, Rebecca C Ahrens-Nicklas, et al.
American Journal of Medical Genetics. Part A|August 7, 2025
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature ReviewRana Aljaberi, Lindsay Romo, Reuven Zev Cohen, et al.
Pageof 11