A5006568040- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Cellular transport and secretion
- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Neonatal Health and Biochemistry
- Trypanosoma species research and implications
- Folate and B Vitamins Research
- Biomedical Research and Pathophysiology
- Thyroid Disorders and Treatments
- Calcium signaling and nucleotide metabolism
- Tracheal and airway disorders
- Infant Nutrition and Health
- Congenital heart defects research
- Blood disorders and treatments
- Carbohydrate Chemistry and Synthesis
- Erythrocyte Function and Pathophysiology
- Names, Identity, and Discrimination Research
- Medical History and Innovations
- Heart Failure Treatment and Management
- Glycosylation and Glycoproteins Research
- Genetics and Neurodevelopmental Disorders
- Medieval Literature and History
- Clusterin in disease pathology
Instituto de Investigación Sanitaria de Santiago
2017-2025
Centre for Biomedical Network Research on Rare Diseases
2022-2025
Universidade de Santiago de Compostela
1989-2024
Centro de Investigación Biomédica en Red
2022-2024
Complejo Hospitalario Universitario de Santiago
2009-2023
Complexo Hospitalario Universitario A Coruña
2009-2017
Xunta de Galicia
1989
Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient α-galactosidase A (α-GalA) activity. Early diagnosis and the prediction of course are complicated clinical heterogeneity FD, as well frequently inconclusive biochemical genetic test results that do not correlate with course. We sought to identify potential biomarkers FD better understand underlying pathophysiology phenotypes. compared plasma proteomes 50 patients matched healthy controls using DDA SWATH-MS....
Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes synthesis of targeting signal mannose 6-phosphate in acid hydrolases. Its deficiency hinders arrival enzymes to lysosome, diminishing multiple degradations components that cells need perform. Due low prevalence this condition, available information scarce. This article aims deepen understanding disease; clinical, biochemical, and proteomic data are...
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy available to treat patients, who often experience delayed diagnosis. A newborn screening for was performed study prevalence pathology and evaluate possibility implement test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males 7025 females) carried out a diagnostic fluorometric measurement enzymatic activity GLA gene sequencing....
Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically mainly musculoskeletal manifestations. The mechanisms underlying bone involvement in humans are typically explored using invasive techniques such as biopsy, which complicates analysis humans. We compared proteomes DDA SWATH-MS wild-type MPS knockout mice to...
Abstract Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection inborn errors metabolism (IEM) was one the first NBS Europe to incorporate mass spectrometry (July 2000). This currently screens 26 IEMs dried blood and urine samples collected 24–72 h after birth. Results In its 22-year history, this has analysed from 440,723 neonates identified 326 cases IEM with prevalence 1:1351. most prevalent were...
Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically mainly musculoskeletal manifestations. The mechanisms underlying bone involvement in humans are typically explored using invasive techniques such as biopsy, which complicates analysis humans. We compared proteomes DDA SWATH-MS wild-type MPS knockout mice...
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficiency in the enzyme α-galactosidase A. This defect leads to progressive accumulation of glycosphingolipids, resulting kidney, heart, and nervous system damage, which contributes significant morbidity mortality. Early diagnosis essential prevent irreversible damage optimize treatment strategies. Recent research aims provide better understanding FD pathophysiology improve management approaches. study an...
Introduction: Inborn errors of metabolism (IEM) represent an important public health problem due to current diagnosis and treatment limitations, poor life quality affected patients, consequent untimely child death. In contrast classical methods, tandem mass spectrometry (MS/MS) has allowed simultaneous evaluation multiple metabolites associated with IEM offering higher sensitivity, low false positive rates high throughput. Aims: Determine concentration levels for amino acids acylcarnitines...
Abstract Background : The fact that mucopolysaccharidoses (MPSes) are now treatable, and the earlier treatment is initiated better, an indication for neonatal screening. most efficient approach seems likely to be a multi‐tier procedure in which screening urinary glycosaminoglycan (GAG) followed by enzyme determinations heelprick blood of newborns positive. Hitherto method choice determination GAG has been measurement absorbance complex 1,9‐dimethylmethylene blue (DMB). Method We evaluated...
Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second two clinical trials was greater, despite recruiting more severely ill patients, probably related to higher initial and maximal doses. We aimed evaluate effective pharmacokinetics pharmacodynamics when administered severe WD 5 twice weekly, an intensive regimen which not assessed trials. Methods recruited 3 receiving measured LAL...
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Skeletal dysplasia and related clinical features of MPS are disruption cartilage its extracellular matrix, leading to growth imbalance. Enzyme replacement therapy (ERT) with recombinant human GALNS has yielded positive results activity daily living endurance tests. However, no data have demonstrated improvements bone lesions grow thin after ERT,...
The mucopolysaccharidoses (MPSs) are underdiagnosed but they evaluated in few newborn screening programs, probably due to the many challenges remaining, such as identification of late-onset phenotypes. Systematic at onset clinical symptoms could help early identify patients who may benefit from specific treatments. aim this prospective study was assess a novel selective program, FIND project, targeting aged 0 16 years with manifestations MPS. project designed increase awareness these...
Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. Systemic skeletal dysplasia and related clinical features of MPS are disruption cartilage its extracellular matrix, leading an imbalance growth. Enzyme replacement therapy (ERT) with recombinant human GALNS, alpha elosulfase, provides systemic treatment. However, this has limited impact on because infused enzyme cannot...
Mucopolysaccharidosis type IVA (MPS IVA) is a lysosomal disease caused by mutations in the gene encoding enzymeN-acetylgalactosamine-6-sulfate sulfatase (GALNS), and characterized systemic skeletal dysplasia due to excessive storage of keratan sulfate (KS) chondroitin-6-sulfate chondrocytes. Although improvements activity daily living endurance tests have been achieved with enzyme replacement therapy (ERT) recombinant human GALNS, recovery bone lesions growth MPS has not demonstrated date....
Report 2 0 8 In tro duc ti onFor application in the detection of congenital hypothyroidism (CH), we recently described an algorithm for calculating a diagnostic threshold thyroid stimulating hormone (TSH) that is specific to each analytical run (1).In this previous report, had mentioned three cases were detected using variable and which would not have been conventional 10 mIU/L.Here describe one these greater detail. ABS TRACTWe report case (CH) with neurological respiratory alterations due...
Mucopolysaccharidosis IVA (Morquio A) is a rare inherited metabolic disease caused by deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS). Until now, treatments employed included hematopoietic stem cell transplantation and replacement therapy (ERT); latter being most commonly used to treat mucopolysaccharidoses, but with serious disadvantages due rapid degradation clearance. The purpose this study was develop evaluate potential nanostructured lipid carriers...
Early diagnosis of phenylketonuria (PKU) became a goal worth pursuing following demonstration the efficacy dietary treatment conceived by Louis I Woolf. This paper narrates history this treatment, describes Woolf's role in establishment neonatal PKU screening and surveys his other contributions to our understanding condition. If Woolf, Centerwall, Baird Berry had waited until all scientific evidence about that is now at disposal been brought light, there would still be no programmes.
Neuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders. lipofuscinosis type 2 disease (NCL2), caused by the deficient enzyme tripeptidyl peptidase 1 (TPP1), is only one with an approved replacement treatment (ERT). Early initiation ERT appears to modify significantly natural history disease. We aimed shorten time diagnosis NCL2.In March 2017, we started per first in Spain selective screening program,...
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called “diagnostic odyssey”, due to combination of rarity their disorder and lack awareness diseases among both primary care professionals specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups are helping reduce these delays; (2) Methods: We used biochemical (thin-layer chromatography high-performance liquid...