Works by Diogo, Luísa

Results: 23

Outcome of three cases of untreated maternal glutaric aciduria type I.

Published in:

2008

By:

Garcia, Paula;
Martins, Esmeralda;
Diogo, Luísa;
Rocha, Hugo;
Marcão, Ana;
Gaspar, Eurico;
Almeida, Margarida;
Vaz, Catarina;
Soares, Isabel;
Barbot, Clara;
Vilarinho, Laura;
Diogo, Luísa;
Marcão, Ana

Publication type:

journal article

Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene.

Published in:

Journal of Autism & Developmental Disorders, 2006, v. 36, n. 8, p. 1137, doi. 10.1007/s10803-006-0138-6

By:

Correia, Catarina;
Coutinho, Ana M.;
Diogo, Luísa;
Grazina, Manuela;
Marques, Carla;
Miguel, Teresa;
Ataíde, Assunção;
Almeida, Joana;
Borges, Luís;
Oliveira, Catarina;
Oliveira, Guiomar;
Vicente, Astrid M.

Publication type:

Article

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 6, p. 565, doi. 10.1007/s10038-008-0263-5

By:

Oliveira, Jorge;
Soares-Silva, Isabel;
Fokkema, Ivo;
Gonçalves, Ana;
Cabral, Alexandra;
Diogo, Luísa;
Galán, Lucía;
Guimarães, António;
Fineza, Isabel;
Dunnen, Johan;
Santos, Rosário

Publication type:

Article

Functional correction by antisense therapy of a splicing mutation in the GALT gene.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 500, doi. 10.1038/ejhg.2014.149

By:

Coelho, Ana I;
Lourenço, Sílvia;
Trabuco, Matilde;
Silva, Maria João;
Oliveira, Anabela;
Gaspar, Ana;
Diogo, Luísa;
Tavares de Almeida, Isabel;
Vicente, João B;
Rivera, Isabel

Publication type:

Article

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3546, doi. 10.3390/ijms25063546

By:

Carvalho, Sofia;
Santos, Juliana Inês;
Moreira, Luciana;
Duarte, Ana Joana;
Gaspar, Paulo;
Rocha, Hugo;
Encarnação, Marisa;
Ribeiro, Diogo;
Barbosa Almeida, Matilde;
Gonçalves, Mariana;
David, Hugo;
Matos, Liliana;
Amaral, Olga;
Diogo, Luísa;
Ferreira, Sara;
Santos, Constança;
Martins, Esmeralda;
Prata, Maria João;
Pereira de Almeida, Luís;
Alves, Sandra

Publication type:

Article

Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review.

Published in:

2022

By:

Guerra, Inês M. S.;
Ferreira, Helena B.;
Melo, Tânia;
Rocha, Hugo;
Moreira, Sónia;
Diogo, Luísa;
Domingues, Maria Rosário;
Moreira, Ana S. P.

Publication type:

Literature Review

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Published in:

Epileptic Disorders, 2013, v. 15, n. 4, p. 400, doi. 10.1684/epd.2013.0610

By:

Oliveira, Renata;
Pereira, Cristina;
Rodrigues, Fidjy;
Alfaite, Claudia;
Garcia, Paula;
Robalo, Conceição;
Fineza, Isabel;
Gonçalves, Olavo;
Struys, Eduard;
Salomons, Gajja;
Jakobs, Cornelis;
Diogo, Luísa

Publication type:

Article

Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 731, doi. 10.1002/jimd.12718

By:

Guerra, Inês M. S.;
Ferreira, Helena B.;
Maurício, Tatiana;
Pinho, Marisa;
Diogo, Luísa;
Moreira, Sónia;
Goracci, Laura;
Bonciarelli, Stefano;
Melo, Tânia;
Domingues, Pedro;
Domingues, M. Rosário;
Moreira, Ana S. P.

Publication type:

Article

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 553, doi. 10.1002/jimd.12055

By:

Vals, Mari‐Anne;
Ashikov, Angel;
Ilves, Pilvi;
Loorits, Dagmar;
Zeng, Qiang;
Barone, Rita;
Huijben, Karin;
Sykut‐Cegielska, Jolanta;
Diogo, Luísa;
Elias, Abdallah F.;
Greenwood, Robert S.;
Grunewald, Stephanie;
van Hasselt, Peter M.;
van de Kamp, Jiddeke M.;
Mancini, Grazia;
Okninska, Agnieszka;
Pajusalu, Sander;
Rudd, Pauline M.;
Rustad, Cecilie F.;
Salvarinova, Ramona

Publication type:

Article

Phenotyping GABA transaminase deficiency: a case description and literature review.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 743, doi. 10.1007/s10545-016-9951-z

By:

Louro, Pedro;
Ramos, Lina;
Robalo, Conceição;
Cancelinha, Cândida;
Dinis, Alexandra;
Veiga, Ricardo;
Pina, Raquel;
Rebelo, Olinda;
Pop, Ana;
Diogo, Luísa;
Salomons, Gajja;
Garcia, Paula

Publication type:

Article

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 43, doi. 10.1007/s10545-013-9623-1

By:

Coelho, Ana;
Ramos, Ruben;
Gaspar, Ana;
Costa, Cláudia;
Oliveira, Anabela;
Diogo, Luísa;
Garcia, Paula;
Paiva, Sandra;
Martins, Esmeralda;
Teles, Elisa;
Rodrigues, Esmeralda;
Cardoso, M.;
Ferreira, Elena;
Sequeira, Sílvia;
Leite, Margarida;
Silva, Maria;
Almeida, Isabel;
Vicente, João;
Rivera, Isabel

Publication type:

Article

Antenatal manifestations of mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 805, doi. 10.1007/s10545-012-9567-x

By:

Tavares, Mariana;
Santos, Maria;
Domingues, Ana;
Pratas, João;
Mendes, Cândida;
Simões, Marta;
Moura, Paulo;
Diogo, Luísa;
Grazina, Manuela

Publication type:

Article

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 443, doi. 10.1007/s10545-011-9423-4

By:

Luís, Paula;
Ruiter, Jos;
IJlst, Lodewijk;
Diogo, Luísa;
Garcia, Paula;
Almeida, Isabel;
Duran, Marinus;
Wanders, Ronald;
Silva, Margarida

Publication type:

Article

Progressive Generalized Dystonia‐Parkinsonism in a Child with Fumaric Aciduria.

Published in:

Movement Disorders Clinical Practice, 2022, v. 9, n. 5, p. 707, doi. 10.1002/mdc3.13450

By:

Reis‐Carneiro, Diogo;
Robalo, Conceição;
Laço, Mário;
Vidailhet, Marie;
Diogo, Luísa

Publication type:

Article

Ketogenic Diet for Refractory Childhood Epilepsy: Beyond Seizures Control, the Experience of a Portuguese Pediatric Centre.

Published in:

Acta Médica Portuguesa, 2019, v. 32, n. 12, p. 760, doi. 10.20344/amp.12184

By:

ROMÃO LUZ, Inês;
PEREIRA, Cristina;
GARCIA, Paula;
FERREIRA, Fátima;
FARIA, Ana;
MACEDO, Cristiane;
DIOGO, Luísa;
ROBALO, Conceição

Publication type:

Article

Doença de Pompe Juvenil: Estudo Retrospetivo de Casuística Clínica.

Published in:

Acta Médica Portuguesa, 2013, v. 26, n. 4, p. 361, doi. 10.20344/amp.180

By:

LOUREIRO NEVES, Filipa;
GARCIA, Paula Cristina;
MADUREIRA, Núria;
ARAÚJO, Henriqueta;
RODRIGUES, Fidjy;
ESTÊVÃO, Maria Helena;
LACERDA, Lúcia;
DIOGO MATOS, Luísa Maria

Publication type:

Article

Síndromes de Deficiência Cerebral de Creatina.

Published in:

Acta Médica Portuguesa, 2012, v. 25, n. 6, p. 389

By:

MALHEIRO, Rui;
DIOGO, Luísa;
GARCIA, Paula;
FINEZA, Isabel;
OLIVEIRA, Guiomar

Publication type:

Article

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 3, p. 875, doi. 10.1007/s11011-018-0197-3

By:

Bruun, Theodora U. J.;
Sidky, Sarah;
Bandeira, Anabela O.;
Debray, Francoise-Guillaume;
Ficicioglu, Can;
Goldstein, Jennifer;
Joost, Kairit;
Koeberl, Dwight D.;
Luísa, Diogo;
Nassogne, Marie-Cecile;
O’Sullivan, Siobhan;
Õunap, Katrin;
Schulze, Andreas;
van Maldergem, Lionel;
Salomons, Gajja S.;
Mercimek-Andrews, Saadet

Publication type:

Article

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1.

Published in:

2025

By:

Marchante Pita, Rita;
Amaral, Raquel;
Vilarinho, Laura;
Diogo, Luísa;
Gonçalves, Isabel;
Nobre, Susana

Publication type:

Case Study

Nonketotic Hyperglycinemia: A Cause of Encephalopathy in Children.

Published in:

2013

By:

Veríssimo, Carla;
Garcia, Paula;
Simões, Marta;
Robalo, Conceição;
Henriques, Raquel;
Diogo, Luísa;
Grazina, Manuela

Publication type:

Case Study

Mitochondrial DNA 8993T>G Mutation in a Child With Ornithine Transcarbamylase Deficiency and Leigh Syndrome: An Unexpected Association.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 8, p. 1059, doi. 10.1177/0883073811431015

By:

Henriques, Margarida;
Diogo, Luísa;
Garcia, Paula;
Pratas, João;
Simões, Marta;
Grazina, Manuela

Publication type:

Article

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559

By:

Ferreira, Filipa;
Azevedo, Luísa;
Neiva, Raquel;
Sousa, Carmen;
Fonseca, Helena;
Marcão, Ana;
Rocha, Hugo;
Carmona, Célia;
Ramos, Sónia;
Bandeira, Anabela;
Martins, Esmeralda;
Campos, Teresa;
Rodrigues, Esmeralda;
Garcia, Paula;
Diogo, Luísa;
Ferreira, Ana Cristina;
Sequeira, Silvia;
Silva, Francisco;
Rodrigues, Luísa;
Gaspar, Ana

Publication type:

Article

Experience on statin therapy in paediatric age: retrospective study in a Portuguese referral centre.

Published in:

2020

By:

Gomes, Hugo A.;
Garcia, Paula;
Diogo, Luísa;
Pires, António;
Martins, Paula

Publication type:

journal article