Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review

Authors: Gonçalo Pelayo, Margarida Paiva Coelho, Joana Correia, Anabela Bandeira, Célia Nogueira, Laura Vilarinho, Esmeralda Martins

Source: Neurobiology of Disease, Vol 200, Iss , Pp 106644- (2024)

Subject Terms: Mitochondrial diseases, Glutamyl-tRNA synthetase 2, Mitochondrial, EARS2 protein, Human, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996124002444; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/9fad257c3ea54ff6adaa664dad31f18f

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Authors: Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: Mucopolysaccharidosis, Sly syndrome, Rare disease, MPS VII, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/72104a0d828544ed9e06b17ee583309d

Early infantile form of galactosialidosis presenting as nonimmune hydrops fetalis: a case report

Authors: Rita Gomes, Bebiana Sousa, Cláudia Falcão Reis, Anabela Bandeira, Lurdes Morais, Sandra Pereira, Sara Leite, Carmen Carvalho

Source: Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 2, Pp e110227-e110227 (2022)

Subject Terms: hydrops fetalis, lysosomal storage diseases, galactosialidosis, genetic counseling, neonatal care, palliative care, Medicine, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://jpnim.com/index.php/jpnim/article/view/1380; https://doaj.org/toc/2281-0692

Access URL: https://doaj.org/article/718b9d4a0dc244429e7aa44817e8b297

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

Authors: Maria João Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges, Júlio César Rocha

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

Subject Terms: Casein glycomacropeptide, Amino acids, Nutritional status, Phenylketonuria, Phenylalanine, Tyrosine, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/73371a146c35491cbbe68d03cad4508e

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

Authors: Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)

Subject Terms: Pyruvate dehydrogenase complex deficiency, Neurological dysfunction, Lactic acidosis, Mutational analysis, Genotype–phenotype correlation, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01586-3; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/37f927c3888f4a17b355b563b8381907

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

Authors: Sara Mosca, Graça Araújo, Vanessa Costa, Joana Correia, Anabela Bandeira, Esmeralda Martins, Helena Mansilha, Mónica Tavares, Margarida P. Coelho

Source: Journal of Nutrition and Metabolism, Vol 2022 (2022)

Subject Terms: Nutritional diseases. Deficiency diseases, RC620-627

File Description: electronic resource

Relation: https://doaj.org/toc/2090-0732

Access URL: https://doaj.org/article/97b1d04750ec445891a7f541c035123b

Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria

Authors: Margarida Paiva Coelho, Joana Correia, Aureliano Dias, Célia Nogueira, Anabela Bandeira, Esmeralda Martins, Laura Vilarinho

Source: JIMD Reports, Vol 49, Iss 1, Pp 11-16 (2019)

Subject Terms: 3‐methylglutaconic aciduria, Fe‐S clusters, ISD11, LYRM4, mitochondrial disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/c9ae8f1531444b8b8bb4b39c32c3ead2

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

Authors: Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho

Source: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

Subject Terms: biochemical and genetic findings, haplotypic study, mutation spectrum, phenylketonuria, Portuguese population, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/9eab7f6ab4204d20b65d07db2cb1d539

SLC35A2-CDG: Novel variant and review

Authors: Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins

Source: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100717- (2021)

Subject Terms: CDG, Congenital disorder(s) of glycosylation, IGF1, Phenotype, SLC35A2, Variant, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000112; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/54434bbf08f84d7e9aff993eb7985c64

SÍNDROME DE LEIGH: A PROPÓSITO DE UM CASO CLÍNICO COM MUTAÇÃO NO DNA MITOCONDRIAL

Authors: Tânia Lopes, Margarida Coelho, Diana Bordalo, António Bandeira, Anabela Bandeira, Laura Vilarinho, Paula Fonseca, Sónia Carvalho, Cecília Martins, José Gonçalves Oliveira

Source: Revista Paulista de Pediatria, Iss 0 (2018)

Subject Terms: ATPase6, Leigh syndrome, Mitochondrial cytopathy, Infant, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822018005011102&lng=en&tlng=en; https://doaj.org/toc/1984-0462

Access URL: https://doaj.org/article/9145f089b92b4865b871d6e529ddf031

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test

Authors: Catarina Sousa Barbosa BSc, Manuela F. Almeida BSc, Cátia Sousa BSc, Sara Rocha MD, Arlindo Guimas MD, Rosa Ribeiro MD, Esmeralda Martins MD, PhD, Anabela Bandeira MD, Bruno M. P. M. Oliveira PhD, Nuno Borges PhD, Anita MacDonald PhD, Júlio C. Rocha PhD

Source: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

Subject Terms: Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2326-4594

Access URL: https://doaj.org/article/2716399a079545a68564e8b906898cdc

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

Authors: Fábio Barroso, Joana Correia, Anabela Bandeira, Carla Carmona, Laura Vilarinho, Manuela Almeida, Júlio César Rocha, Esmeralda Martins

Source: Revista Paulista de Pediatria, Vol 38

Subject Terms: tyrosine, tyrosinemias, attention deficit disorder with hyperactivity, metabolism, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822020000100610&lng=en&tlng=en; https://doaj.org/toc/0103-0582; https://doaj.org/toc/1984-0462

Access URL: https://doaj.org/article/ab5a930602784dcea1fb8925a8171868