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Dodelson

Showing results (71-80 of 95) with videos related to

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Clinical Genetics|October 2, 2009
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patientsR Kohan, I A Cismondi, R Dodelson Kremer, et al.
Human Mutation|April 27, 2011
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patientsMónica Cozar, Roser Urreizti, Laura Vilarinho, et al.
Plos One|January 10, 2013
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsCyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, et al.
Metabolic Brain Disease|March 15, 2002
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiencyRaquel Dodelson de Kremer, Alexandra Latini, Terttu Suormala, et al.
Molecular Genetics and Metabolism|November 16, 2004
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stabilityCelia J Angaroni, Raquel Dodelson de Kremer, Carlos E Argaraña, et al.
Current Pharmaceutical Biotechnology|January 18, 2011
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinosesR Kohan, I A Cismondi, A M Oller-Ramirez, et al.
JIMD Reports|February 23, 2013
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?M B Bistué Millón, M A Delgado, N B Azar, et al.
Pediatric Research|November 7, 2018
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfallsCarla Gabriela Asteggiano, Magali Papazoglu, María Beatriz Bistué Millón, et al.
Molecular Genetics and Metabolism|January 21, 2006
Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in ArgentinaAna María Oller Ramírez, María D Ramos, Javier Jiménez, et al.
Medicina|January 1, 1987
[Estimation of heterozygote frequency of Sandhoff disease in a high-risk Argentinian population. Predictive assignment of the genotype through statistical analysis]R Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, et al.
Pageof 10

Showing results (71-80 of 95) with videos related to

Sort By:
Pageof 10
Clinical Genetics|October 2, 2009
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patientsR Kohan, I A Cismondi, R Dodelson Kremer, et al.
Human Mutation|April 27, 2011
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patientsMónica Cozar, Roser Urreizti, Laura Vilarinho, et al.
Plos One|January 10, 2013
X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patientsCyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, et al.
Metabolic Brain Disease|March 15, 2002
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiencyRaquel Dodelson de Kremer, Alexandra Latini, Terttu Suormala, et al.
Molecular Genetics and Metabolism|November 16, 2004
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stabilityCelia J Angaroni, Raquel Dodelson de Kremer, Carlos E Argaraña, et al.
Current Pharmaceutical Biotechnology|January 18, 2011
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinosesR Kohan, I A Cismondi, A M Oller-Ramirez, et al.
JIMD Reports|February 23, 2013
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?M B Bistué Millón, M A Delgado, N B Azar, et al.
Pediatric Research|November 7, 2018
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfallsCarla Gabriela Asteggiano, Magali Papazoglu, María Beatriz Bistué Millón, et al.
Molecular Genetics and Metabolism|January 21, 2006
Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in ArgentinaAna María Oller Ramírez, María D Ramos, Javier Jiménez, et al.
Medicina|January 1, 1987
[Estimation of heterozygote frequency of Sandhoff disease in a high-risk Argentinian population. Predictive assignment of the genotype through statistical analysis]R Dodelson de Kremer, C Depetris de Boldini, A Paschini de Capra, et al.
Pageof 10