Laura Vilarinho
A5023623446- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- ATP Synthase and ATPases Research
- Genomics and Rare Diseases
- Biochemical and Molecular Research
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
- RNA modifications and cancer
- Porphyrin Metabolism and Disorders
- Maternal and Neonatal Healthcare
- Glycogen Storage Diseases and Myoclonus
- Muscle metabolism and nutrition
- Biomedical Research and Pathophysiology
- Genetics and Neurodevelopmental Disorders
- Iron Metabolism and Disorders
- Thyroid Disorders and Treatments
- Cancer, Hypoxia, and Metabolism
- Genetic Neurodegenerative Diseases
- Cystic Fibrosis Research Advances
- Carbohydrate Chemistry and Synthesis
- Peroxisome Proliferator-Activated Receptors
- Neonatal Respiratory Health Research
National Institute of Health Dr. Ricardo Jorge
2016-2025
Instituto Nacional de Saúde
2011-2020
Universidade do Porto
2011-2020
Mayo Clinic
2019
John Wiley & Sons (United States)
2018
Ricardo (United Kingdom)
2011-2015
Centro de Genética Clínica
2004-2014
Administração Regional de Saúde de Lisboa e Vale do Tejo
2013
NTL Institute for Applied Behavioral Science
2012
Hospital de Magalhães Lemos
2000-2009
Neonatal screening (NBS) was initiated in Europe during the 1960s with for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, a boost late 1990s introduction tandem mass spectrometry (MS/MS), making it possible to screen 40–50 conditions using single blood spot. most recent additions programmes (screening cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through molecular technologies. For this...
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures has contributed a reduction in childhood mortality from SCD. Policies methodologies NBS vary different countries, this might have consequences the quality clinical outcomes across Europe. A two-day Pan-European consensus conference was held Berlin April 2017 order appraise current status...
We report a novel G13513A mutation in the mitochondrial ND5 gene patient who had morphologically and biochemically abnormal muscle mitochondria died at age 45 with diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes). The affects an evolutionarily conserved nucleotide was heteroplasmic muscle, leukocytes, several autopsy tissues, including brain. less abundant (<5%) leukocytes from asymptomatic sister not found over 100 controls, thus satisfying...
The fundamental importance of correct protein glycosylation is abundantly clear in a group diseases known as congenital disorders (CDGs). In these diseases, many biological functions are compromised, giving rise to wide range severe clinical conditions. By performing detailed analyses the total serum glycoproteins well isolated transferrin and IgG, we have directly correlated aberrant with faulty processing step. one patient complete absence complex type sugars was consistent ablation...
Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients.The collected data from questionnaires literature reports. A score including degree intellectual disability, epileptic seizures, movement was developed used to classify clinical phenotype as severe, moderate, or mild. Score biochemical were assessed before during treatment with oral substitution alone...
Background: Glycogen storage disease type IV (GSD-IV) is a clinically heterogeneous autosomal recessive disorder due to glycogen branching enzyme (GBE) deficiency and resulting in the accumulation of an amylopectin-like polysaccharide. The typical presentation liver childhood, progressing lethal cirrhosis. neuromuscular form GSD-IV varies onset (perinatal, congenital, juvenile, or adult) severity. Objective: To identify molecular bases different forms establish possible genotype/phenotype...
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 biogenesis, despite all mitochondria having their own DNA. The development of next-generation sequencing (NGS) technologies has revolutionized the understanding many pathogenesis MDs. In this new genetic era, using NGS approach, we aimed to identify etiology for suspected MD cohort 450 Portuguese...
The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene family which 10-year-old girl had severe neurodegenerative disorder, her elder sister died of Leigh syndrome (LS), and maternal uncle spinocerebellar disorder. Biochemical studies disclosed reduced rate ATP synthesis skin fibroblast cultures from proposita as likely explanation illness. findings expand genetic variants associated with LS.
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 newborn screening, including 188,217 samples, was performed between May 2021 December 2023 – Phase I 24,130 newborns in Lisbon Setubal districts; II 164,087 whole country. DBS samples were analyzed through capillary electrophoresis. In phase I, a high birth prevalence found...
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 newborn screening, including 188,217 samples, was performed between May 2021 December 2023, with phase I, 24,130 newborns, in the Lisbon Setubal districts II, 164,087 whole country. DBS samples were analyzed through capillary electrophoresis. In a high birth incidence found...
A Acne Vulgaris é uma condição dermatológica prevalente entre adolescentes, sendo que a isotretinoína comumente empregada no tratamento de casos graves e resistentes terapias convencionais. Este estudo visa avaliar eficácia segurança do uso para o da grave. pesquisa baseou-se em revisão sistemática, realizada por meio levantamento bibliográfico nas bases dados PubMed SciELO. Os resultados indicaram fatores como obesidade alimentação inadequada aumentam risco desenvolvimento acne. O com levou...
Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in TK2 and DGUOK genes. Three novel identified (R183G, R254X, 142insG). When we additional genes involved dNTPs pool, such as SLC25A19 (DNC) NT5M (d-NT2), did not detect mutations. The current study suggest that scanning TK2, DGUOK, SLC25A19, is likely to help about 10% of MDS families terms genetic counseling. Also, our findings indicate genotype-phenotype correlations...