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Sylvia Stockler

Showing results (1-10 of 125) with videos related to

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Seizure|August 27, 2025
Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosisAnita N Datta, Sylvia Stockler
The Tohoku Journal of Experimental Medicine|January 5, 2007
Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndromeSaadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu
International Journal of Molecular Sciences|December 3, 2020
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct <i>GLB1</i>-Related Dysostosis MultiplexNataliya Yuskiv, Katsumi Higaki, Sylvia Stockler-Ipsiroglu
Molecular Genetics and Metabolism|January 4, 2012
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature reviewClara D M van Karnebeek, Sylvia Stockler
Paediatrics & Child Health|November 22, 2014
Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British ColumbiaClara Dm van Karnebeek, Sylvia Stockler-Ipsiroglu
Seminars in Neurology|September 6, 2014
Cerebral creatine deficiencies: a group of treatable intellectual developmental disordersSylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
Frontiers in Pediatrics|March 19, 2024
Morquio B disease: a case reportTara Gholamian, Harpreet Chhina, Sylvia Stockler, et al.
Sub-Cellular Biochemistry|July 26, 2008
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiologySylvia Stockler, Peter W Schutz, Gajja S Salomons
Paediatrics & Child Health|October 22, 2021
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disabilityHilary Vallance, Graham Sinclair, Bojana Rakic, et al.
Molecular Genetics and Metabolism|December 31, 2021
Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy childrenHaneen Saleemani, Gabriella Horvath, Sylvia Stockler-Ipsiroglu, et al.
Pageof 13

Showing results (1-10 of 125) with videos related to

Sort By:
Pageof 13
Seizure|August 27, 2025
Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosisAnita N Datta, Sylvia Stockler
The Tohoku Journal of Experimental Medicine|January 5, 2007
Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndromeSaadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu
International Journal of Molecular Sciences|December 3, 2020
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct <i>GLB1</i>-Related Dysostosis MultiplexNataliya Yuskiv, Katsumi Higaki, Sylvia Stockler-Ipsiroglu
Molecular Genetics and Metabolism|January 4, 2012
Treatable inborn errors of metabolism causing intellectual disability: a systematic literature reviewClara D M van Karnebeek, Sylvia Stockler
Paediatrics & Child Health|November 22, 2014
Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British ColumbiaClara Dm van Karnebeek, Sylvia Stockler-Ipsiroglu
Seminars in Neurology|September 6, 2014
Cerebral creatine deficiencies: a group of treatable intellectual developmental disordersSylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
Frontiers in Pediatrics|March 19, 2024
Morquio B disease: a case reportTara Gholamian, Harpreet Chhina, Sylvia Stockler, et al.
Sub-Cellular Biochemistry|July 26, 2008
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiologySylvia Stockler, Peter W Schutz, Gajja S Salomons
Paediatrics & Child Health|October 22, 2021
Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disabilityHilary Vallance, Graham Sinclair, Bojana Rakic, et al.
Molecular Genetics and Metabolism|December 31, 2021
Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy childrenHaneen Saleemani, Gabriella Horvath, Sylvia Stockler-Ipsiroglu, et al.
Pageof 13