Works matching AU Bandeira, Anabela
Results: 15
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
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- Article
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
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- Genes, 2023, v. 14, n. 8, p. 1536, doi. 10.3390/genes14081536
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- Article
Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 11, doi. 10.1002/jmd2.12058
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Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
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- 2021
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- journal article
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
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- 2020
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- journal article
Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.
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- Journal of Nutrition & Metabolism, 2022, p. 1, doi. 10.1155/2022/4782344
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- Article
Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria.
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- Nutrients, 2019, v. 11, n. 5, p. 995, doi. 10.3390/nu11050995
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- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
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- 2021
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- journal article
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
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- 2019
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- journal article
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.
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- Nutrients, 2021, v. 13, n. 9, p. 3118, doi. 10.3390/nu13093118
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- Article
Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team.
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- Nutrients, 2021, v. 13, n. 3, p. 799, doi. 10.3390/nu13030799
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- Article
Leigh syndrome: a case report with a mitochondrial DNA mutation.
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- Revista Paulista de Pediatria, 2019, v. 37, n. 1, p. 136
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- Article
LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.
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- Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003
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- Article
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
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- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 875, doi. 10.1007/s11011-018-0197-3
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- Article