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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
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
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3546, doi. 10.3390/ijms25063546
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- Article
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6355, doi. 10.3390/ijms21176355
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- Article
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01264
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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
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
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- Genes, 2021, v. 12, n. 8, p. 1262, doi. 10.3390/genes12081262
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- Article
1302: THE NEW GHENT CRITERIA FOR MARFAN SYNDROME: CLINICAL IMPLICATIONS.
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- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 228
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- Article
MAN1B1 Deficiency: An Unexpected CDG-II.
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- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
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- Article
The European Phenylketonuria Guidelines and the challenges on management practices in Portugal.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 6, p. 623, doi. 10.1515/jpem-2018-0527
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- Article
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-102
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- Article
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
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- 2013
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- journal article
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 671, doi. 10.1002/jimd.12241
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- Article
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
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- Article
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 43, doi. 10.1007/s10545-013-9623-1
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- Article
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 835, doi. 10.1007/s10545-011-9287-7
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- 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
Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.
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- 2019
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- journal article
Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools.
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- 2017
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- journal article
Outcome of three cases of untreated maternal glutaric aciduria type I.
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- 2008
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- journal article
Neonatal cholestasis: an uncommon presentation of hyperargininemia.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 503, doi. 10.1007/s10545-010-9263-7
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- Article
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
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- Human Mutation, 1999, v. 14, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I
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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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- Article
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
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- Biomedicines, 2023, v. 11, n. 6, p. 1699, doi. 10.3390/biomedicines11061699
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- Article
Symmetric asymptomatic reticular lesions of the skin.
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- 2017
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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
A experiência da criança no perioperatório de cirurgia programada.
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- Revista de Enfermagem Referência, 2009, n. 9, p. 7
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- Article
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
Maple syrup disease presenting as paroxysmal dystonia.
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- Annals of Neurology, 2004, v. 56, n. 5, p. 749
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- Article
Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.
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- GE Portuguese Journal of Gastroenterology, 2019, v. 26, n. 6, p. 430, doi. 10.1159/000496571
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- Article
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