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Journal of Mother and Child
|
October 16, 2023
Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
Catarina Teixeira, Catarina Cordeiro, Carla Pinto, et al.
Acta Medica Portuguesa
|
March 29, 2013
[Cerebral creatine deficiency syndromes]
Rui Malheiro, Luísa Diogo, Paula Garcia, et al.
Acta Medica Portuguesa
|
January 8, 2005
[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis]
Luísa Diogo, Teresa Proença, Paula Garcia, et al.
Cureus
|
January 15, 2024
Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment
Rui Diogo, Luísa Diogo, Rute Serra, et al.
Movement Disorders Clinical Practice
|
July 18, 2022
Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria
Diogo Reis-Carneiro, Conceição Robalo, Mário Laço, et al.
Pediatric Neurology
|
December 27, 2011
Phenotypic variability in a portuguese family with x-linked creatine transport deficiency
Paula Garcia, Fidjy Rodrigues, Carla Valongo, et al.
Cardiology in the Young
|
May 16, 2020
Experience on statin therapy in paediatric age: retrospective study in a Portuguese referral centre
Hugo A Gomes, Paula Garcia, Luísa Diogo, et al.
BMJ Case Reports
|
May 19, 2012
Neonatal liver failure due to deoxyguanosine kinase deficiency
Susana Nobre, Manuela Grazina, Francisco Silva, et al.
Journal of Child Neurology
|
January 14, 2012
Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association
Margarida Henriques, Luísa Diogo, Paula Garcia, et al.
Annals of Hepatology
|
September 11, 2013
Acute liver failure in under two year-olds--are there markers of metabolic disease on admission?
Ana Brett, Carla Pinto, Leonor Carvalho, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 52) with videos related to
Sort By:
Page
of 6
Journal of Mother and Child
|
October 16, 2023
Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit
Catarina Teixeira, Catarina Cordeiro, Carla Pinto, et al.
Acta Medica Portuguesa
|
March 29, 2013
[Cerebral creatine deficiency syndromes]
Rui Malheiro, Luísa Diogo, Paula Garcia, et al.
Acta Medica Portuguesa
|
January 8, 2005
[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis]
Luísa Diogo, Teresa Proença, Paula Garcia, et al.
Cureus
|
January 15, 2024
Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment
Rui Diogo, Luísa Diogo, Rute Serra, et al.
Movement Disorders Clinical Practice
|
July 18, 2022
Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria
Diogo Reis-Carneiro, Conceição Robalo, Mário Laço, et al.
Pediatric Neurology
|
December 27, 2011
Phenotypic variability in a portuguese family with x-linked creatine transport deficiency
Paula Garcia, Fidjy Rodrigues, Carla Valongo, et al.
Cardiology in the Young
|
May 16, 2020
Experience on statin therapy in paediatric age: retrospective study in a Portuguese referral centre
Hugo A Gomes, Paula Garcia, Luísa Diogo, et al.
BMJ Case Reports
|
May 19, 2012
Neonatal liver failure due to deoxyguanosine kinase deficiency
Susana Nobre, Manuela Grazina, Francisco Silva, et al.
Journal of Child Neurology
|
January 14, 2012
Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association
Margarida Henriques, Luísa Diogo, Paula Garcia, et al.
Annals of Hepatology
|
September 11, 2013
Acute liver failure in under two year-olds--are there markers of metabolic disease on admission?
Ana Brett, Carla Pinto, Leonor Carvalho, et al.
Page
of 6