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Fernando Scaglia

Showing results (41-50 of 190) with videos related to

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Pediatrics|January 5, 2002
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiencyFernando Scaglia, Qiping Zheng, William E O'Brien, et al.
JAMA Neurology|March 9, 2016
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike EpisodesMary Kay Koenig, Lisa Emrick, Amel Karaa, et al.
Meta Gene|November 21, 2014
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndromeAyman W El-Hattab, Lisa T Emrick, Kaitlin C Williamson, et al.
The Journal of Pediatrics|December 17, 2005
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathologyErik A Eklund, Liangwu Sun, Vibeke Westphal, et al.
Frontiers in Genetics|August 8, 2024
Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classificationChen-Han Wilfred Wu, Alicja Tomaszewski, Louisa Stark, et al.
American Journal of Medical Genetics. Part A|June 4, 2011
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2Melissa B Ramocki, Fernando Scaglia, Pawel Stankiewicz, et al.
Journal of Child Neurology|June 11, 2015
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating DiseaseJoaquin A Pena, Timothy Lotze, Yaping Yang, et al.
Archives of Neurology|February 16, 2005
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiencySeema R Lalani, Georgirene D Vladutiu, Katie Plunkett, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|May 11, 2002
TyrosinemiaRussell Lam, Arturo Armenta, Murat Kilic, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosisFernando Scaglia, Hannes Vogel, Edith P Hawkins, et al.
Pageof 19

Showing results (41-50 of 190) with videos related to

Sort By:
Pageof 19
Pediatrics|January 5, 2002
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiencyFernando Scaglia, Qiping Zheng, William E O'Brien, et al.
JAMA Neurology|March 9, 2016
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike EpisodesMary Kay Koenig, Lisa Emrick, Amel Karaa, et al.
Meta Gene|November 21, 2014
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndromeAyman W El-Hattab, Lisa T Emrick, Kaitlin C Williamson, et al.
The Journal of Pediatrics|December 17, 2005
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathologyErik A Eklund, Liangwu Sun, Vibeke Westphal, et al.
Frontiers in Genetics|August 8, 2024
Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classificationChen-Han Wilfred Wu, Alicja Tomaszewski, Louisa Stark, et al.
American Journal of Medical Genetics. Part A|June 4, 2011
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2Melissa B Ramocki, Fernando Scaglia, Pawel Stankiewicz, et al.
Journal of Child Neurology|June 11, 2015
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating DiseaseJoaquin A Pena, Timothy Lotze, Yaping Yang, et al.
Archives of Neurology|February 16, 2005
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiencySeema R Lalani, Georgirene D Vladutiu, Katie Plunkett, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|May 11, 2002
TyrosinemiaRussell Lam, Arturo Armenta, Murat Kilic, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosisFernando Scaglia, Hannes Vogel, Edith P Hawkins, et al.
Pageof 19