Volume 24, Supplementary Issue: 19th International Symposium-Portuguese Society of Metabolic Disorders (SPDM) , 2024
Citrullinemia and What Else?
Pp: 21-21
Author(s): Joana Almeida*, Fátima Ferreira, Nanci Baptista, Sara Ferreira, Constança Santos and Luísa Diogo
DOI: 10.2174/0118715303280142231006103019
Published on: 18 October, 2023
It’s Never Too Late for a Diagnosis
Pp: 22-22
Author(s): Mariana Coelho*, João Durães, João Freixo, José Tomás and Carmo Macário
DOI: 10.2174/0118715303280103231006102831
Published on: 18 October, 2023
Neonatal Glycogen Storage Disease Type IA: A Rare Presentation
Pp: 23-23
Author(s): Joana Tenente*, Teresa Campos, Carla Vasconcelos, Helena Santos, Marisa Carvalho, Altina Ramos, Laura Vilarinho, Esmeralda Rodrigues and Elisa Leão Teles
DOI: 10.2174/0118715303278622231006102118
Published on: 19 October, 2023
Sulphur Amino Acids: How Important is it to Set Reference Ranges for Each Population?
Pp: 24-24
Author(s): Helena Caldeira Araújo*, Cristina Florindo, Alexandra Gomes, João Caio, Rita Castro and Isabel Rivera
DOI: 10.2174/0118715303282774231128053723
Published on: 12 January, 2024
Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene
Pp: 25-25
Author(s): Marta P. Soares*, André M. Travessa, Sónia Custódio, Carla Pereira, Patrícia Pinto and Ana Berta Sousa
DOI: 10.2174/0118715303283767231120113921
Published on: 12 January, 2024
Pilot Study on Newborn Screening for Spinal Muscular Atrophy
Pp: 26-26
Author(s): H. Fonseca*, D. Ribeiro, F. Guimarães, C. Pinto, A. Marcão, C. Sousa, I. Carvalho, L. Lopes, D. Rodrigues, H. Rocha and L. Vilarinho
DOI: 10.2174/1871530323666230914122955
Published on: 22 September, 2023
Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort
Pp: 27-27
Author(s): Patrícia Lipari Pinto*, Beatriz Câmara, Cristina Florindo, Rita Santos Loureiro, Inês Jardim, Carmen Sousa, Laura Vilarinho, Patrícia Janeiro, Isabel Tavares de Almeida and Ana Gaspar
DOI: 10.2174/1871530323666230914122946
Published on: 22 September, 2023
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Re-sults from a Retrospective Observational Study in a Tertiary Hospital
Pp: 28-28
Author(s): A. Pereira*, J. Diogo da Silva, A. Rita Soares, A. Guimas, S. Rocha, M. Cardoso, C. Garrido, C. Azevedo Soares, I. Nunes, A. Maria Fortuna, D. Quelhas, S. Figueiroa, R. Ribeiro, M. Santos, E. Martins and N. Tkachenko
DOI: 10.2174/1871530323666230914122936
Published on: 22 September, 2023
Mit.OnOff: A Science Communication Project for Public Awareness about Mitochondrial Cytopathies
Pp: 29-29
Author(s): Manuela Grazina*, Sara Martins, Maria João Santos, Marta Simões, Carolina Caetano, Beatriz Neves, Sara Varela Amaral and Laurence A. Bindoff
DOI: 10.2174/1871530323666230914114434
Published on: 28 September, 2023
