Laura Vilarinho
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View article: NMR-based Urinary Biomarkers in Pediatric Primary Mitochondrial Disorders and Chronic Kidney Disease: Shared Mitochondrial Dysfunction, Diverging Biosignatures
NMR-based Urinary Biomarkers in Pediatric Primary Mitochondrial Disorders and Chronic Kidney Disease: Shared Mitochondrial Dysfunction, Diverging Biosignatures Open
Background: Renal involvement is a frequent manifestation of primary mitochondrial disorders (PMD), either as a presenting feature or during the disease course. Simultaneously, the metabolomic profile of chronic kidney disease (CKD) is oft…
View article: Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes
Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes Open
The implementation of newborn screening (NBS) has revolutionized the diagnostic landscape of cystic fibrosis (CF). In Portugal, NBS was initiated in October 2013 through a pilot study and was subsequently fully integrated into a nationwide…
View article: NMR-based Urinary Biomarkers in Pediatric Primary Mitochondrial Disorders and Chronic Kidney Disease: Shared Mitochondrial Dysfunction, Diverging Biosignatures
NMR-based Urinary Biomarkers in Pediatric Primary Mitochondrial Disorders and Chronic Kidney Disease: Shared Mitochondrial Dysfunction, Diverging Biosignatures Open
Background: Renal involvement is a frequent manifestation of primary mitochondrial disorders (PMD), either as a presenting feature or during the disease course. Simultaneously, the metabolomic profile of chronic kidney disease (CKD) is oft…
View article: Atypical <scp>MEGDHEL</scp> Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <scp><i>SERAC1</i></scp>
Atypical <span>MEGDHEL</span> Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of <span><i>SERAC1</i></span> Open
MEGDHEL syndrome, caused by a SERAC1 gene defect, is clinically defined as the association of 3‐MGA‐uria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh‐like features (L). Clinical presentation typically begins in the n…
View article: Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population Open
The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disea…
View article: Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population
Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population Open
The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disea…
View article: A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum
A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum Open
Background: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of disease presentation, a new consensus published recently addressed the m…
View article: Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review Open
Mitochondrial glutamyl-aminoacyl tRNA synthetase deficiency, stemming from biallelic mutations in the EARS2 gene, was first described in 2012. With <50 cases reported globally, this condition exhibits a distinct phenotype of neonatal or ch…
View article: Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS Open
The Portuguese Neonatal Screening Program (PNSP) conducts nationwide screening for rare diseases, covering nearly 100% of neonates and screening for 28 disorders, including 24 inborn errors of metabolism (IEMs). The study’s purpose is to a…
View article: The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study Open
Introduction: Rare disorders that are genetically and clinically heterogeneous, such as mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most proteins involved in mitochondrial biogenesis, despite all mitoch…
View article: History of Neonatal Screening of Congenital Hypothyroidism in Portugal
History of Neonatal Screening of Congenital Hypothyroidism in Portugal Open
Congenital hypothyroidism (CH) leads to growth and development delays and is preventable with early treatment. Neonatal screening for CH was initiated in Portugal in 1981. This study examines the history of CH screening in the country. Dat…
View article: Iodineminho Study: Iodine Supplementation and Prevalence of Iodine Deficiency In Pregnant Women
Iodineminho Study: Iodine Supplementation and Prevalence of Iodine Deficiency In Pregnant Women Open
Context Iodine is necessary for proper brain development. The prevalence of iodine deficiency in Portuguese pregnant women led the health authorities, in 2013, to recommend iodine supplementation for women in preconception, throughout preg…
View article: Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study
Maternal Urinary Iodine Concentration during Pregnancy and Its Impact on Child Growth and Neurodevelopment: An 11-Year Follow-Up Study Open
Mild-to-moderate iodine deficiency during pregnancy is prevalent worldwide, but its consequences for maternal and child health are not clear. We aimed to investigate the impact of maternal iodine intake during pregnancy on the child’s grow…
View article: Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era Open
Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in childre…
View article: National newborn screening for sickle cell disease and communication of carrier status
National newborn screening for sickle cell disease and communication of carrier status Open
Portugal is currently implementing a pilot project to screen for sickle cell disease during national newborn screening. This project started in the region of Lisbon and the Tagus valley where there is a higher frequency of African populati…
View article: Novel MTO1 mutations associated with an intrafamilial phenotypic variability
Novel MTO1 mutations associated with an intrafamilial phenotypic variability Open
Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitocho…
View article: Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection Open
The early diagnosis of and intervention in vitamin B12 deficiency in exclusively breastfed infants by mothers with low vitamin B12 is crucial in preventing possible irreversible neurologic damage, megaloblastic anemia, and failure to thriv…
View article: Neonatal Screening Program of Congenital Hypothyroidism: How Can We (Still) Improve?
Neonatal Screening Program of Congenital Hypothyroidism: How Can We (Still) Improve? Open
Background: Congenital hypothyroidism (CH) has severe and irreversible neurological consequences for the child if treatment is not readily initiated, which justifies fast diagnosis. Screening of CH is a universal procedure well established…
View article: Role of RNA in Molecular Diagnosis of MADD Patients
Role of RNA in Molecular Diagnosis of MADD Patients Open
The electron-transfer flavoprotein dehydrogenase gene (ETFDH) encodes the ETF-ubiquinone oxidoreductase (ETF-QO) and has been reported to be the major cause of multiple acyl-CoA dehydrogenase deficiency (MADD). In this study, we present th…
View article: Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 Open
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tande…
View article: [Portuguese Newborn Screening Program.]
[Portuguese Newborn Screening Program.] Open
The Portuguese Newborn Screening Program is a public health program that started in 1979, screening for PKU, being totally supported by public funds. It's a non-mandatory well implemented program that testes about 99.9% of Portuguese newbo…
View article: Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses Open
Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). P…
View article: TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW Open
Objective: Tyrosinemia type III (HT III) is the rarest form of tyrosinemia, and the full clinical spectrum of this disorder is still unknown. The neurological involvement varies, including intellectual impairment and attention deficit diso…