A5047501466- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Metabolism and Genetic Disorders
- Biomedical Research and Pathophysiology
- Carbohydrate Chemistry and Synthesis
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Genetic Neurodegenerative Diseases
- Child Nutrition and Feeding Issues
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Renal Diseases and Glomerulopathies
- Pediatric Hepatobiliary Diseases and Treatments
- Diet and metabolism studies
- Peroxisome Proliferator-Activated Receptors
- Ion Transport and Channel Regulation
- Muscle Physiology and Disorders
- Gallbladder and Bile Duct Disorders
- Diabetes and associated disorders
- Studies on Chitinases and Chitosanases
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Methemoglobinemia and Tumor Lysis Syndrome
Vall d'Hebron Institut de Recerca
2019-2025
Universitat Autònoma de Barcelona
2014-2024
Vall d'Hebron Hospital Universitari
2018-2023
CIBBIM-Nanomedicine
2021-2022
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2014-2021
Centre for Biomedical Network Research on Rare Diseases
2015-2021
University of Amsterdam
2021
Instituto de Salud Carlos III
2015-2020
IrsiCaixa
2020
Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine
2020
Abstract Although manganese is an essential trace metal, little known about its transport and homeostatic regulation. Here we have identified a cohort of patients with novel autosomal recessive transporter defect caused by mutations in SLC39A14. Excessive accumulation these results rapidly progressive childhood-onset parkinsonism–dystonia distinctive brain magnetic resonance imaging appearances neurodegenerative features on post-mortem examination. We show that SLC39A14 impair vitro lead to...
Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation globotriaosylceramide throughout body, leading to organ failure and premature death.Here, we present clinical manifestations in children enrolled FOS--the Outcome Survey--a European database natural history effects replacement therapy with agalsidase alfa (Replagal).Currently, there are 545 patients FOS, from 11 countries. We analysed...
Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that characterized by accumulation of globotriaosylceramide throughout range tissues in the body.To ascertain prevalence and nature cutaneous manifestations patients with to relate these severity systemic disease.We have documented dermatological features this reference data from 714 (345 males, 369 females) registered on Outcome Survey (FOS), multicentre European database.We confirm commonest...
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. We conducted retrospective analysis of all known patients suffering from encephalomyopathy who underwent allogeneic haematopoietic between 2005 and 2011. Twenty-four patients, 11 males 13 females, median age 25 years (range 10–41 years) treated with...
Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled the Outcome Survey (FOS) were compared published findings untreated disease. Data extracted FOS, a Shire-sponsored database, comparison data three studies. evaluated annualized rate change estimated glomerular filtration (eGFR) and left ventricular mass indexed to height (LVMI) as well time ages at composite morbidity endpoint death. FOS 740 treated who followed...
To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease.Safety and efficacy ERT agalsidase alfa, 0.2 mg/kg infused over 40 minutes every 2 weeks for 23 weeks, were studied a multicentre open-label trial nine boys four girls. Median age at start study was 11.0 years (range 3.5-18 years).Fifty-four adverse events reported 11 patients. No serious related to reported. Twelve 54 considered possibly or probably ERT. Infusion reactions (8 mild, 3 moderate) occurred...
Background. Mutations in the TRPC6 gene have been reported six families with adult-onset (17–57 years) autosomal dominant focal segmental glomerulosclerosis (FSGS). Electrophysiology studies confirmed augmented calcium influx only three of these mutations. To date, role childhood and adulthood non-familial forms is unknown. Methods.TRPC6 mutation analysis was performed by direct sequencing 130 Spanish patients from 115 unrelated FSGS. An silico scoring matrix developed to evaluate...
Ramaswami U, Parini R, Pintos‐Morell G, Kalkum Kampmann C, Beck M, on behalf of the FOS Investigators. Fabry disease in children and response to enzyme replacement therapy: results from Outcome Survey. The Survey (FOS) was established extend knowledge natural history assess effects therapy (ERT) with agalsidase alfa. As March 2009, 64 boys 34 girls had enrolled been treated alfa for at least 6 months. prevalence symptoms tended be reduced after 12 24 months ERT patients who experienced...
Cardiac involvement, including progressive cardiomyopathy, is common in Fabry disease and a leading cause of premature mortality. We sought to determine if tissue Doppler imaging (TDI) could identify patients at risk for the development cardiomyopathy enzyme replacement therapy (ERT) with agalsidase alfa might slow or prevent progression cardiac involvement. were enrolled this prospective, observational study. Echocardiography was performed baseline periodically throughout A single...
We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as January 2011 (n = 239, prevalence ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that is actually higher.We have now updated main data, well potential associations within/between them, individuals currently (December 2016).Ninety-four new (all Caucasian) been diagnosed, yielding a ~1/139,543 individuals. Around 55%...
Abstract In the present study use of extracellular vesicles (EVs) as vehicles for therapeutic enzymes in lysosomal storage disorders was explored. EVs were isolated from mammalian cells overexpressing alpha‐galactosidase A (GLA) or N‐sulfoglucosamine sulfohydrolase (SGSH) enzymes, defective Fabry and Sanfilippo diseases, respectively. Direct purification cell supernatants found to be a simple efficient method obtain highly active GLA SGSH proteins, even after EV lyophilization. Likewise,...
The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, goals include timely diagnosis, use globally coordinated pipelines, assessing impact rare diseases affected individuals. As part this mission, DSC endeavored create a list research priorities achieve these goals. We present those along current, global disease needs...
Abstract Background: Fabry disease is a rare X‐linked disorder caused by deficient activity of the enzyme α‐galactosidase A. This produces progressive lysosomal accumulation globotriaosylceramide throughout body, leading to organ failure and premature death. Aim: Here, we present clinical manifestations in children enrolled FOS—the Outcome Survey—a European database natural history effects replacement therapy with agalsidase alfa (Replagal™). Methods: Currently, there are 545 patients FOS,...
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by deficiency in the activity lysosomal enzyme, alpha-galactosidase A. In affected patients, enzyme substrate, globotriaosylceramide (Gb3), accumulates cells various tissues and organs. Lysosomal accumulation Gb3 begins utero, signs symptoms emerge childhood adolescence. The earliest presenting are typically neuropathic pain gastrointestinal problems, which can have substantial impact on health-related...
Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose this study is describe characteristics patients with Spain.Observational, cross-sectional multicenter study. Clinical, biochemical genetic data were collected from UCDs, treated metabolic diseases centers Spain between February 2012 2013, covering entire Spanish population. Heterozygous mothers OTC deficiency only included if they on due being symptomatic or having...
Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization cohort of 30 patients, one largest series described. By comparing with other published populations, considering that 80% our patients presented p.Ala204Thr Spanish founder mutation presumably associated common phenotype,...
Purpose: To determine the impact of initiating enzyme replacement therapy (ERT) with agalsidase alfa early in course Fabry disease, we evaluated renal and cardiac outcomes for ≤ 10 years after ERT initiation males from Outcome Survey (FOS). Patients Methods: Male patients FOS were stratified into three cohorts by age at initiation: 18 (cohort 1), > 30 2), 3). Analysis included symptom onset, diagnosis, initiation; duration; FOS-Mainz Severity Score Index (FOS-MSSI); estimated glomerular...