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Dodelson

Showing results (61-70 of 95) with videos related to

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Human Genetics|October 21, 2010
Gene symbol: IDS. Disease: Hunter syndromeAna María Oller Ramirez, María José Coll, Amparo Chabás, et al.
Human Genetics|April 14, 2011
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophyCyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, et al.
Clinical Biochemistry|April 11, 2009
Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population clusterLaura E Laróvere, Celia J Angaroni, Sandra L Antonozzi, et al.
Molecular Genetics and Metabolism|February 24, 2006
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase geneCelia J Angaroni, Philippe Labrune, François Petit, et al.
Revista De La Facultad De Ciencias Medicas (Cordoba, Argentina)|December 22, 2020
Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experienceSilene Silvera Ruiz, Carola L Grosso, Margot Tablada, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlookCelia J Angaroni, Alicia N Giner-Ayala, Lorena P Hill, et al.
Clinical Biochemistry|April 12, 2005
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinosesRomina Kohan, Inés Noher de Halac, Verónica Tapia Anzolini, et al.
Medicina|January 1, 1992
[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]R Dodelson de Kremer, R I Kelley, C Depetris de Boldini, et al.
The Journal of Bone and Joint Surgery. American Volume|May 29, 2012
A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case reportMaría Andrea Delgado, Patricia Sarrión, Nydia Azar, et al.
Orphanet Journal of Rare Diseases|August 21, 2019
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findingsSilene M Silvera-Ruiz, José A Arranz, Johannes Häberle, et al.
Pageof 10

Showing results (61-70 of 95) with videos related to

Sort By:
Pageof 10
Human Genetics|October 21, 2010
Gene symbol: IDS. Disease: Hunter syndromeAna María Oller Ramirez, María José Coll, Amparo Chabás, et al.
Human Genetics|April 14, 2011
Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophyCyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, et al.
Clinical Biochemistry|April 11, 2009
Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population clusterLaura E Laróvere, Celia J Angaroni, Sandra L Antonozzi, et al.
Molecular Genetics and Metabolism|February 24, 2006
Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase geneCelia J Angaroni, Philippe Labrune, François Petit, et al.
Revista De La Facultad De Ciencias Medicas (Cordoba, Argentina)|December 22, 2020
Efficacy of citrulline supplementation to decrease the risk of pulmonary hypertension after congenital heart disease surgery. A local experienceSilene Silvera Ruiz, Carola L Grosso, Margot Tablada, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlookCelia J Angaroni, Alicia N Giner-Ayala, Lorena P Hill, et al.
Clinical Biochemistry|April 12, 2005
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinosesRomina Kohan, Inés Noher de Halac, Verónica Tapia Anzolini, et al.
Medicina|January 1, 1992
[3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency as a cause of severe neurological damage]R Dodelson de Kremer, R I Kelley, C Depetris de Boldini, et al.
The Journal of Bone and Joint Surgery. American Volume|May 29, 2012
A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case reportMaría Andrea Delgado, Patricia Sarrión, Nydia Azar, et al.
Orphanet Journal of Rare Diseases|August 21, 2019
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findingsSilene M Silvera-Ruiz, José A Arranz, Johannes Häberle, et al.
Pageof 10