Hugo Rocha
Overview
Explore the profile of Hugo Rocha including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
437
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Recent Articles
1.
Santos J, Goncalves M, Almeida M, Rocha H, Duarte A, Matos L, et al.
Int J Mol Sci
. 2025 Feb;
26(3).
PMID: 39941041
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:...
2.
Lorandel B, Rocha H, Cazimajou O, Mishra R, Bernard A, Bowyer P, et al.
Magn Reson Chem
. 2024 Oct;
63(1):49-61.
PMID: 39415466
Diffusion-ordered NMR spectroscopy (DOSY) is a powerful tool to analyse mixtures. Spatially encoded (SPEN) DOSY enables recording a full DOSY dataset in just one scan by performing spatial parallelisation of...
3.
Carvalho S, Santos J, Moreira L, Duarte A, Gaspar P, Rocha H, et al.
Int J Mol Sci
. 2024 Mar;
25(6).
PMID: 38542525
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...
4.
Goncalves M, Marcao A, Sousa C, Nogueira C, Fonseca H, Rocha H, et al.
Int J Neonatal Screen
. 2024 Mar;
10(1).
PMID: 38535129
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...
5.
Carvalho S, Moreira L, Santos J, Gaspar P, Goncalves M, Matos L, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Nov;
PMID: 37937567
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,...
6.
Fonseca H, Ribeiro D, Guimaraes F, Pinto C, Marcao A, Sousa C, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Sep;
PMID: 37711122
Introduction: Newborn screening (NBS) in Portugal is a significant public health measure to provide early detection for specific disorders so that early treatment is possible. Spinal muscular atrophy (SMA) is...
7.
Goncalves M, Marcao A, Sousa C, Nogueira C, Ferreira F, Fonseca H, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Sep;
PMID: 37711117
Introduction: The Portuguese Neonatal Screening Programme (PNSP) identifies patients with rare diseases through nationwide screening. Currently, 27 diseases are diagnosed, amongst which are 24 Inborn Errors of Metabolism (IEM), covering...
8.
Brandao S, Reis-Mendes A, Duarte-Araujo M, Neuparth M, Rocha H, Carvalho F, et al.
Biomolecules
. 2023 Jun;
13(6).
PMID: 37371499
Doxorubicin (DOX) and mitoxantrone (MTX) are classical chemotherapeutic agents used in cancer that induce similar clinical cardiotoxic effects, although it is not clear if they share similar underlying molecular mechanisms....
9.
Ferreira H, Melo T, Rocha H, Paiva A, Domingues P, Domingues M
Mol Omics
. 2023 Jan;
19(3):229-237.
PMID: 36625394
Dried blood spot (DBS) is a minimally invasive sampling technique that has several advantages over conventional venipuncture/arterial blood sampling. More recently, DBS has also been applied for lipidomics analysis, but...
10.
Guerra I, Ferreira H, Melo T, Rocha H, Moreira S, Diogo L, et al.
Int J Mol Sci
. 2022 Nov;
23(22).
PMID: 36430419
Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation...