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Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection

Nutrients, 2022-10, Vol.14 (20), p.4397

2022

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Recurrent acute kidney injury and rhabdomyolysis: Questions

Pediatric nephrology (Berlin, West), 2021-12, Vol.36 (12), p.4045-4046

2021

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Recurrent acute kidney injury and rhabdomyolysis: Answers

Pediatric nephrology (Berlin, West), 2021-12, Vol.36 (12), p.4047-4049

2021

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

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.298-298, Article 298

2020

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

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-445, Article 445

2021

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Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

Genes, 2023-07, Vol.14 (8), p.1536

2023

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NGLY1 deficiency—A rare congenital disorder of deglycosylation

JIMD reports, 2020-05, Vol.53 (1), p.2-9

2020

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Role of RNA in Molecular Diagnosis of MADD Patients

Biomedicines, 2021-05, Vol.9 (5), p.507

2021

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New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

Journal of pediatric and neonatal individualized medicine, 2024-04, Vol.13 (1), p.e130111-e130111

2024

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Catechin electrochemical oxidation mechanisms

Analytica chimica acta, 2004-08, Vol.518 (1), p.109-115

2004

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Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Journal of pediatric intensive care, 2022-09, Vol.11 (3), p.183-192

2022

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Scaling-Up and Semi-Continuous Cultivation of Locally Isolated Marine Microalgae Tetraselmis striata in the Subtropical Island of Gran Canaria (Canary Islands, Spain)

Processes, 2021-08, Vol.9 (8), p.1326

2021

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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

The Journal of pediatrics, 2021-04, Vol.231, p.148-156

2021

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Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

Journal of pediatric intensive care, 2023-09, Vol.12 (3), p.243-243

2023

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The European Phenylketonuria Guidelines and the challenges on management practices in Portugal

Journal of Pediatric Endocrinology and Metabolism, 2019-06, Vol.32 (6), p.623-629

2019

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

Molecular genetics & genomic medicine, 2021-03, Vol.9 (3), p.e1559-n/a

2021

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Mutações no Gene IBA57 como Causa de Leucodistrofia na Idade Pediátrica: Um Caso Clínico

Sinapse, 2024-06, Vol.24 (2), p.87-92

2024

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Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort

Endocrine, metabolic & immune disorders drug targets, 2023-09, Vol.23

2023

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Síndrome de Guillain-Barré tras varicela

Revista de neurologiá, 2010-12, Vol.51 (12), p.764

2010

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Long-Term Cultivation of a Native Arthrospira platensis (Spirulina) Strain in Pozo Izquierdo (Gran Canaria, Spain): Technical Evidence for a Viable Production of Food-Grade Biomass

Processes, 2021-08, Vol.9 (8), p.1333

2021

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Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

European journal of pediatrics, 2019-03, Vol.178 (3), p.387-394

2019

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Solid State Electrochemical Oxidation Mechanisms Of Morin in Aqueous Media

Electroanalysis (New York, N.Y.), 2005-05, Vol.17 (9), p.733-738

2005

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Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients

Gene, 2013-09, Vol.527 (1), p.366-370

2013

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Flow cytometry as a tool for measuring the kinetics of IgM-positive cells in the gill and spleen of sea bream juveniles after bath immunization against Photobacterium damselae subsp. piscicida (Phdp)

Journal of Applied Animal Research, 2017-01, Vol.45 (1), p.56-59

2017

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Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection

Recurrent acute kidney injury and rhabdomyolysis: Questions

Recurrent acute kidney injury and rhabdomyolysis: Answers

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

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

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

NGLY1 deficiency—A rare congenital disorder of deglycosylation

Role of RNA in Molecular Diagnosis of MADD Patients

New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

Catechin electrochemical oxidation mechanisms

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Scaling-Up and Semi-Continuous Cultivation of Locally Isolated Marine Microalgae Tetraselmis striata in the Subtropical Island of Gran Canaria (Canary Islands, Spain)

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

The European Phenylketonuria Guidelines and the challenges on management practices in Portugal

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

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

Mutações no Gene IBA57 como Causa de Leucodistrofia na Idade Pediátrica: Um Caso Clínico

Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort

Síndrome de Guillain-Barré tras varicela

Long-Term Cultivation of a Native Arthrospira platensis (Spirulina) Strain in Pozo Izquierdo (Gran Canaria, Spain): Technical Evidence for a Viable Production of Food-Grade Biomass

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

Solid State Electrochemical Oxidation Mechanisms Of Morin in Aqueous Media

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients

Flow cytometry as a tool for measuring the kinetics of IgM-positive cells in the gill and spleen of sea bream juveniles after bath immunization against Photobacterium damselae subsp. piscicida (Phdp)

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