المؤلفون: Ana Catarina Alves, Beatriz Miranda, Oana Moldovan, Raquel Espírito Santo, Raquel Gouveia Silva, Sandra Soares Cardoso, Luísa Diogo, Mónica Seidi, Silvia Sequeira, Mafalda Bourbon

مصطلحات موضوعية: Hypoalphalipoproteinemia, Rare dyslipidaemias, HDE MTB, HDL cholesterol, LDL cholesterol, Genetics, Molecular Medicine, Hypobetalipoproteinemia, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3cac89684e5d15f1196ea1e9d5a5b0Test
https://hdl.handle.net/10400.17/4601Test

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

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

مصطلحات موضوعية: 0301 basic medicine, Pyruvate dehydrogenase complex deficiency, HDE MTB, Population, lcsh:Medicine, Pyruvate Dehydrogenase Complex, macromolecular substances, medicine.disease_cause, E3 binding protein, Neurological dysfunction, 03 medical and health sciences, 0302 clinical medicine, Mutant protein, Genotype, medicine, Humans, Missense mutation, Pyruvate Dehydrogenase (Lipoamide), Pharmacology (medical), education, Pyruvate Dehydrogenase Complex Deficiency Disease, Genetics (clinical), Genetics, education.field_of_study, Mutation, Portugal, biology, Lactic acidosis, Genotype–phenotype correlation, Research, lcsh:R, General Medicine, Pyruvate dehydrogenase complex, Mutational analysis, Phenotype, 030104 developmental biology, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe25ed0d30249c796e02cedf7bcd1a24Test
http://link.springer.com/article/10.1186/s13023-020-01586-3Test

المؤلفون: María E. Vázquez-Mosquera, Emiliano González-Vioque, Francisco Ferraz Laranjeira, Alejandro Avila-Alvarez, Ana C. Ferreira, Roi Chans, José V. Álvarez, Esmeralda Martins, Sofia Barbosa-Gouveia, María L. Couce

المصدر: Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1262, p 1262 (2021)

مصطلحات موضوعية: Male, Mitochondrial Diseases, Adolescent, HDE MTB, inborn errors of metabolism, Inborn errors of metabolism, QH426-470, Bioinformatics, Article, genetic diagnosis, Gene panel, differential diagnosis, Genetics, Humans, Medicine, Child, Gene, Genetics (clinical), business.industry, Genetic heterogeneity, Intermediary Metabolism, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Metabolism, Phenotype, Hypoglycemia, Molecular Diagnostic Techniques, Child, Preschool, Hyperglycemia, Genetic diagnosis, Mutation, Female, Differential diagnosis, business, Haploinsufficiency, Metabolism, Inborn Errors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::982136112d6053577ee49c59125ba026Test

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

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Molecular Genetics & Genomic Medicine
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Phenylalanine hydroxylase, HDE MTB, biochemical and genetic findings, Population, phenylketonuria, Phenylalanine, Disease, QH426-470, 030105 genetics & heredity, Biology, Compound heterozygosity, Biochemical, 03 medical and health sciences, Portuguese population, Neonatal Screening, Gene Frequency, Liver enzyme, Phenylketonurias, Genetics, Humans, Phenylketonuria, Haplotypic Study, Mutation Spectrum, education, Molecular Biology, Genotype-Phenotype Correlations, Genetics (clinical), haplotypic study, education.field_of_study, Portugal, Homozygote, Infant, Newborn, Phenylalanine Hydroxylase, Original Articles, Biochemical and genetic findings, 030104 developmental biology, Phenotype, Haplotypes, Genetic marker, Mutation, biology.protein, mutation spectrum, Genetic Findings, Female, Original Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec34ddd023de871a85080df47b2e6bbTest
https://hdl.handle.net/10400.17/3707Test

المؤلفون: Carla Conceição, Jose Bras, Marta Amorim, Clara Marecos, Ana C. Ferreira, Susana Carmona, Sofia Duarte, Rita Guerreiro

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Neurology: Genetics

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, HDE MTB, HDE GEN, HDE NEU PED, 03 medical and health sciences, 0302 clinical medicine, Polymicrogyria, medicine, Spastic, Spasticity, Clinical/Scientific Notes, Genetics (clinical), Splice site mutation, business.industry, Hereditary Spastic Paraplegias, medicine.disease, nervous system diseases, body regions, 030104 developmental biology, Neonatal hypotonia, HDE NRAD, Corticospinal tract, Hypertonia, Neurology (clinical), medicine.symptom, Paraplegia, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae82f6f8e7b21ff9843acd5231cf8428Test
https://doi.org/10.1212/nxg.0000000000000273Test