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Patrícia Janeiro

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Cureus|October 7, 2025
Palliative Care Approach in a Case of Severe Nonketotic Hyperglycinemia With Long Survival: A Case ReportDiana Pereira, Tiago Santos, Patrícia Janeiro, et al.
BMJ Case Reports|June 21, 2011
Congenital laryngomucocoele: a rare cause for CHAOSManuel Sousa Cunha, Patrícia Janeiro, Rosário Fernandes, et al.
European Journal of Pediatrics|May 14, 2009
Caloric intake and weight gain in a neonatal intensive care unitPatrícia Janeiro, Manuel Cunha, António Marques, et al.
Acta Medica Portuguesa|August 7, 2025
Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative ManagementLúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, et al.
Journal of Pediatric Intensive Care|August 5, 2022
Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care UnitPatrícia Lipari, Zakhar Shchomak, Leonor Boto, et al.
JIMD Reports|May 13, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylationPatrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, et al.
Orphanet Journal of Rare Diseases|October 23, 2021
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohortAntonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, et al.
Frontiers in Pediatrics|July 4, 2025
Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhoodBeatriz Câmara, Cristina Florindo, Cláudia Bandeira de Lima, et al.
European Journal of Pediatrics|January 9, 2019
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening eraPatrícia Janeiro, Rita Jotta, Ruben Ramos, et al.
Molecular Genetics and Metabolism|August 30, 2011
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patientsIsabel Rivera, Dina Mendes, Ângela Afonso, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Cureus|October 7, 2025
Palliative Care Approach in a Case of Severe Nonketotic Hyperglycinemia With Long Survival: A Case ReportDiana Pereira, Tiago Santos, Patrícia Janeiro, et al.
BMJ Case Reports|June 21, 2011
Congenital laryngomucocoele: a rare cause for CHAOSManuel Sousa Cunha, Patrícia Janeiro, Rosário Fernandes, et al.
European Journal of Pediatrics|May 14, 2009
Caloric intake and weight gain in a neonatal intensive care unitPatrícia Janeiro, Manuel Cunha, António Marques, et al.
Acta Medica Portuguesa|August 7, 2025
Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative ManagementLúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, et al.
Journal of Pediatric Intensive Care|August 5, 2022
Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care UnitPatrícia Lipari, Zakhar Shchomak, Leonor Boto, et al.
JIMD Reports|May 13, 2020
NGLY1 deficiency-A rare congenital disorder of deglycosylationPatrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, et al.
Orphanet Journal of Rare Diseases|October 23, 2021
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohortAntonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, et al.
Frontiers in Pediatrics|July 4, 2025
Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhoodBeatriz Câmara, Cristina Florindo, Cláudia Bandeira de Lima, et al.
European Journal of Pediatrics|January 9, 2019
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening eraPatrícia Janeiro, Rita Jotta, Ruben Ramos, et al.
Molecular Genetics and Metabolism|August 30, 2011
Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patientsIsabel Rivera, Dina Mendes, Ângela Afonso, et al.
Pageof 3