Volume 24, Supplementary Issue: 19th International Symposium-Portuguese Society of Metabolic Disorders (SPDM) , 2024
Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of Ms/Ms
Pp: 1-1
Author(s): M. Gonçalves*, A. Marcão, C. Sousa, C. Nogueira, F. Ferreira, H. Fonseca, H. Rocha and L. Vilarinho
DOI: 10.2174/1871530323666230914114505
Published on: 27 September, 2023
Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases
Pp: 2-2
Author(s): Bárbara Martins Saraiva*, Susana Santos, Ana Cristina Ferreira and Mafalda Paiva
DOI: 10.2174/1871530323666230914114425
Published on: 22 September, 2023
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients
Pp: 3-3
Author(s): Jorge Diogo Da Silva*, Isaura Ribeiro, Carla Caseiro, Eugénia Pinto, Sónia Rocha, Helena Ribeiro, Célia Ferreira, Elisabete Silva, Francisco Laranjeira, Nataliya Tkachenko, Lúcia Lacerda and Dulce Quelhas
DOI: 10.2174/1871530323666230914114414
Published on: 25 September, 2023
SERAC1 Deficiency- A New Phenotype
Pp: 4-4
Author(s): Emanuel Martins*, João Durães, Célia Nogueira, João Gomes, Laura Vilarinho and Carmo Macário
DOI: 10.2174/1871530323666230914114456
Published on: 25 September, 2023
Pharmacogenetic Variants Can Influence Optical Medication Use
Pp: 5-5
Author(s): Diana Alves*, Filipa Ferreira, Cristina Pereira, Altina Lopes, Célia Nogueira and Laura Vilarinho
DOI: 10.2174/0118715303271934231211085226
Published on: 18 December, 2023
Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center
Pp: 6-6
Author(s): Goncalo Padeira*, Sandra Jacinto, Augusto Ribeirinho and Ana Cristina Ferreira
DOI: 10.2174/0118715303272253231004094018
Published on: 11 October, 2023
Increasing Sanfilippo Syndrome Awareness through Children's Literature and Music
Pp: 7-7
Author(s): Raquel Marques*, Rodrigo Carlson and Guilhain Higonnet
DOI: 10.2174/0118715303272345231211094632
Published on: 18 December, 2023
Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report
Pp: 8-8
Author(s): S. Reigada*, C. Santos, F. Ramos, S. Carvalho, J. Ribeiro, C. Cancelinha and L. Diogo
DOI: 10.2174/0118715303274239231005105248
Published on: 11 October, 2023
Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
Pp: 9-9
Author(s): Marta Simões, Maria João Santos, Sara Martins, Maria do Carmo Macário, João Durães, Luísa Diogo, João Paulo Oliveira, José Carlos Ferreira and Manuela Grazina*
DOI: 10.2174/0118715303273290231211062420
Published on: 18 December, 2023
Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants
Pp: 10-10
Author(s): Sara Martins, Maria João Santos, Marta Simões, Sandra Jacinto, Cristina Martins Halpern, Juliette Dupont, Luísa Diogo and Manuela Grazina*
DOI: 10.2174/0118715303273271230928060000
Published on: 04 October, 2023
Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses
Pp: 11-11
Author(s): Sofia Carvalho, Luciana Moreira, Juliana Inês Santos, Paulo Gaspar, Mariana Gonçalves, Liliana Matos, Hugo David, Marisa Encarnação, Diogo Ribeiro, Ana Joana Duarte, Olga Amaral, Hugo Rocha, Luísa Diogo, Sara Ferreira, Constança Santos, Esmeralda Martins, Teresa Neuparth, Joana Soares, Marta Ribeiro, Brígida Ribeiro Pinho, Nuno Oliveira, Jorge Miguel Ascenção Oliveira, Maria João Prata, Miguel Santos, Sandra Alves and Maria Francisca Coutinho*
DOI: 10.2174/0118715303277318231024055425
Published on: 02 November, 2023
Muscle Quality and Risk of Metabolic Syndrome in Adult Patients with Inherited Metabolic Diseases
Pp: 12-12
Author(s): Luis Mguel Luengo-Pérez*, Ana Ambrojo, Mercedes Fernández-Bueso, Marta Guijarro, Ana Ferreira, Goncalo Luzes, M. Pereira, Conceição Calhau and Júlio Cesar Rocha
DOI: 10.2174/0118715303279040231129055755
Published on: 11 December, 2023
Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases
Pp: 13-13
Author(s): Mafalda Rebelo*, Madalena Pires, Laura Azurara, Lara Câmara, Márcia Pereira, Augusto Ribeirinho, Gonçalo Padeira, Patrícia Gaspar Silva, Sandra Jacinto, José Pedro Vieira and Ana Cristina Ferreira
DOI: 10.2174/0118715303279208231012051937
Published on: 18 October, 2023
Follow-up of Patients with Hereditary Metabolic Diseases during the 3 Years of the Pandemic in the Reference Center for Hereditary Metabolism Diseases of the Centro Hospitalar Universitário Lisboa Norte
Pp: 14-14
Author(s): Anabela Belo*, Daniel Gomes, Patricia Nunes and Anabela Oliveira
DOI: 10.2174/0118715303279331231123050015
Published on: 13 December, 2023
Experience of Miglustat Therapy in Pediatric Patients with Niemann-pick Type C Disease
Pp: 15-15
Author(s): Claudia Monteiro*, Anabela Bandeira, Joana Correira, Cristina Garrido, Teresa Temudo and Esmeralda Martins
DOI: 10.2174/0118715303279407231006180056
Published on: 15 October, 2023
Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy
Pp: 16-16
Author(s): Marta Ribeiro*, Mafalda Rebelo, Andreia Pereira, Diana Antunes, Ana Cristina Ferreira and Sandra Jacinto
DOI: 10.2174/0118715303279209231026044120
Published on: 08 November, 2023
18 Months of Treatment with Triheptanoin in 2 Patients with Long Chain Fatty Acid Oxidation Disorders
Pp: 17-17
Author(s): Helena Santos*, Ana Vieira, Joana Tenente, Ana Carriço and Esmeralda Rodrigues
DOI: 10.2174/0118715303279681231122104925
Published on: 13 December, 2023
Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?
Pp: 18-18
Author(s): Joana Pereira Mendes*, Andreia Nogueira, Ema Grilo, Sara Ferreira, Luísa Diogo and Cândida Cancelinha
DOI: 10.2174/0118715303278702231019093844
Published on: 30 October, 2023
Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof-the-art and current challenges
Pp: 19-19
Author(s): Ana Miguel Capela*, Ana Cunha, Ana Maria Fortuna and Cláudia Falcão Reis
DOI: 10.2174/0118715303279986231211090830
Published on: 18 December, 2023
Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines
Pp: 20-20
Author(s): Hana Pavlú-Pereira*, Cristina Florindo, Filipa Carvalho, Isabel Tavares de Almeida, Joao Vicente, Vanessa Morais and Rivera Isabel
DOI: 10.2174/0118715303280072231004082458
Published on: 11 October, 2023
