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Ana Marcão

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Biochemical and Biophysical Research Communications|June 6, 2003
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425TAna Marcão, Jorge E Azevedo, Volkmar Gieselmann, et al.
The FEBS Journal|February 22, 2005
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulumPeter Poeppel, Matthias Habetha, Ana Marcão, et al.
Gene|September 8, 2016
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screeningHelena Fonseca, Luisa Azevedo, Catarina Serrano, et al.
American Journal of Medical Genetics. Part A|December 28, 2002
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutationsAna Marcão, Heidi Simonis, Frank Schestag, et al.
Revista Espanola De Salud Publica|January 26, 2021
[Portuguese Newborn Screening Program.]Hugo Rocha, Ana Marcão, Carmen Sousa, et al.
Molecular Genetics and Metabolism|September 2, 2003
ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysisAna Marcão, Eugénia Pinto, Sónia Rocha, et al.
International Journal of Neonatal Screening|March 27, 2024
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MSMaria Miguel Gonçalves, Ana Marcão, Carmen Sousa, et al.
Journal of Inherited Metabolic Disease|February 24, 2010
Four years of expanded newborn screening in Portugal with tandem mass spectrometryLaura Vilarinho, Hugo Rocha, Carmen Sousa, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|September 15, 2023
Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MSMaria Miguel Gonçalves, Ana Marcão, Carmen Sousa, et al.
JIMD Reports|February 2, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaAna Marcão, María L Couce, Célia Nogueira, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Biochemical and Biophysical Research Communications|June 6, 2003
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425TAna Marcão, Jorge E Azevedo, Volkmar Gieselmann, et al.
The FEBS Journal|February 22, 2005
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulumPeter Poeppel, Matthias Habetha, Ana Marcão, et al.
Gene|September 8, 2016
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screeningHelena Fonseca, Luisa Azevedo, Catarina Serrano, et al.
American Journal of Medical Genetics. Part A|December 28, 2002
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutationsAna Marcão, Heidi Simonis, Frank Schestag, et al.
Revista Espanola De Salud Publica|January 26, 2021
[Portuguese Newborn Screening Program.]Hugo Rocha, Ana Marcão, Carmen Sousa, et al.
Molecular Genetics and Metabolism|September 2, 2003
ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysisAna Marcão, Eugénia Pinto, Sónia Rocha, et al.
International Journal of Neonatal Screening|March 27, 2024
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MSMaria Miguel Gonçalves, Ana Marcão, Carmen Sousa, et al.
Journal of Inherited Metabolic Disease|February 24, 2010
Four years of expanded newborn screening in Portugal with tandem mass spectrometryLaura Vilarinho, Hugo Rocha, Carmen Sousa, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets|September 15, 2023
Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MSMaria Miguel Gonçalves, Ana Marcão, Carmen Sousa, et al.
JIMD Reports|February 2, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaAna Marcão, María L Couce, Célia Nogueira, et al.
Pageof 2