Hugo Rocha

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening

Judit García‐Villoria, Rosa María López-Galera, Carmen Delgado‐Pecellín, Dolores Rausell et autres

Newborn screening (NBS) is a cornerstone of preventive medicine, enabling early diagnosis and treatment of severe congenital disorders. In Spain, despite the existence of a Basic Common Portfolio, the absence of a harmonized national panel has led to significant inter-regional variability, affecting …

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General Nuclear Magnetic Resonance Analysis Toolbox for Stats: A Comprehensive Module for Nuclear Magnetic Resonance-Based Chemometrics and Metabolomics

Hugo Rocha, Anders Malmendal, Fay Probert, Guilherme Dal Poggetto et autres

The general nuclear magnetic resonance analysis toolbox (GNAT) has established itself as a versatile free and open-source software suite for processing and analyzing NMR data. Here, we present a major expansion for comprehensive metabolomics analysis. The module implements a whole NMR metabolomics …

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GNAT for Stats: A Comprehensive Module for NMR based Chemometrics and Metabolomics

Hugo Rocha, Anders Malmendal, Fay Probert, Guilherme Dal Poggetto et autres

The General NMR Analysis Toolbox (GNAT) has established itself as a versatile free and open-source software suite for processing and analyzing NMR data. Here we present a major expansion for comprehensive metabolomics analysis. The module implements a whole NMR metabolomics pipeline in …

NMR-based Urinary Biomarkers in Pediatric Primary Mitochondrial Disorders and Chronic Kidney Disease: Shared Mitochondrial Dysfunction, Diverging Biosignatures

Margarida Paiva Coelho, Teresa Costa, Aureliano Dias, Inês Graça et autres

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NMR-based Urinary Biomarkers in Pediatric Primary Mitochondrial Disorders and Chronic Kidney Disease: Shared Mitochondrial Dysfunction, Diverging Biosignatures

Margarida Paiva Coelho, Teresa Costa, Aureliano Dias, Inês Graça et autres

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Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomics

Inês M. S. Guerra, Hugo Rocha, Sónia Moreira, Ana Gaspar et autres

Fatty acid (FA) oxidation disorders (FAOD) are characterized by accumulation of specific acylcarnitines (CAR) and FA and can lead to potentially severe complications. In this study, dried blood spots (DBS) combined with LC-MS lipidomics analysis were used to assess lipidome plasticity in …

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mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis

Juliana Inês Santos, Mariana Gonçalves, Matilde Barbosa Almeida, Hugo Rocha et autres

Mucopolysaccharidosis type IIIC is a neurodegenerative lysosomal storage disorder (LSD) characterized by the accumulation of undegraded heparan sulfate (HS) due to the lack of an enzyme responsible for its degradation: acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT). Classical treatments are ineffective. Here, we attempt a new …

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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

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte et autres

Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establishment and characterization of two MPS II …

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Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS

Maria Miguel Gonçalves, Ana Marcão, Cármen Sousa, Célia Nogueira et autres

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 assess the epidemiology of the screened metabolic diseases …

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Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte et autres

Among the many Lysosomal Storage Disorders (LSDs) that would benefit from the establish-ment of novel cell models, either patient-derived or genetically engineered, is Mucopolysaccha-ridosis type II (MPS II). In fact, even though a specific therapeutic approach does exist for this disorder (Enzyme …

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Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses

Sofia Carvalho, Luciana Moreira, Juliana Inês Santos, Paulo Gaspar et autres

INTRODUCTION: When it comes to disease modeling, countless models are available for Lysosomal Storage Diseases (LSD). Historically, two major approaches are well-established: in vitro assessments are performed in patient fibroblasts, while in vivo pre-clinical studies are performed in mouse models. Still, both …

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Inborn glycolytic pathway defects

Hugo Rocha

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