74 documents found, page 1 of 8

Diagnóstico e investigação bioquímica e molecular das doenças mitocondriais em ...

Porfirias – Implementação do Laboratório Nacional de Referência para o Diagnóst...

Morpholino Knockdown in Zebrafish: A Tool to Investigate the Functional Impact ...

Mitochondrial diseases (MDs) are heterogeneous multisystemic disorders often caused by genetic defects in either nuclear or mitochondrial DNA. Although next-generation sequencing technologies have dramatically expanded the number of variants associated with these diseases, many remain variants of unknown significance (VUS). This review explores the utility of zebrafish (Danio rerio) as a vertebrate model system...

After all, Porphyria exists in Portugal! A three-year study

Introduction: Porphyrias are a group of eight rare inherited disorders, each caused by a defect in a specific enzymatic step of heme biosynthesis. These disorders are multisystemic, with variable symptoms, and represent a major burden for patients and families, with disabling chronic symptoms scattered with life-threatening acute attacks. There are two main clinical types of porphyria: acute porphyria and cutan...

Serine metabolism disorder - one more metabolic aetiology of cerebral palsy

Introduction: Cerebral palsy (CP) refers to a group of neurological disorders caused by damaage or abnormalities of the developing brain, disrupting its ability to control movement and maintain posture and balance. Usually attributed to labour occurrences, metabolic and genetic disorders are increasingly being identified as main aetiological factors. Serine metabolism disorder involving SLC1A4 gene encoding for...

Early Diagnosis of Mucopolysaccharidoses in Pediatrics

Introduction: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the red flags of MPSs at pediatric age and to provide a useful tool for physicians to diagn...

Early Diagnosis of Mucopolysaccharidoses in Pediatrics

Introduction: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the redflags of MPSs at pediatric age and to provide a useful tool for physicians to diagno...

Doenças Mitocondriais e Aplicação de Novas Tecnologias no Diagnóstico e Investi...

A tecnologia de sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular de doenças genéticas raras, nomeadamente das doenças mitocondriais, em particular as que são causadas por alterações em genes nucleares. Esta tecnologia tem a capacidade de gerar uma enorme quantidade de dados num curto espaço de tempo e a um custo acessível, tornando esta abordagem ideal para uma vasta gama de aplicações, t...

Find Project: Results of 8 Years

Introdução e Objectivos: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the red flags of MPSs at pediatric age and to provide an useful tool for physici...

Genotype First: Excesso ou Antecipação Diagnóstica?

As tecnologias de sequenciação de nova geração (Next Generation Sequencing, NGS) revolucionaram o diagnóstico das doenças raras, promovendo a implementação do modelo “genotype-first”, no qual a informação genética pode anteceder a manifestação clínica. Esta abordagem contrasta com o modelo tradicional “phenotype-first”, centrado na caracterização clínica como ponto de partida da investigação genétca.