A5020133461- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Psychological Treatments and Disorders
- Vitamin D Research Studies
- Liver Disease Diagnosis and Treatment
- Lysosomal Storage Disorders Research
- Pancreatic function and diabetes
- Diet, Metabolism, and Disease
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Vitamin C and Antioxidants Research
- Amino Acid Enzymes and Metabolism
- Aging, Health, and Disability
- Psychology Research and Bibliometrics
- Metabolomics and Mass Spectrometry Studies
- Diabetes and associated disorders
- Calcium signaling and nucleotide metabolism
- Clinical Nutrition and Gastroenterology
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diabetes Treatment and Management
- Obesity, Physical Activity, Diet
- Adipose Tissue and Metabolism
- Social Sciences and Policies
Hospital de Cruces
2016-2025
Centre for Biomedical Network Research on Rare Diseases
2009-2025
University of the Basque Country
2016-2025
BioCruces Health research Institute
2016-2025
Centro de Investigación Biomédica en Red
2019-2022
Centre Hospitalier Universitaire de Tours
2021
University Medical Center Groningen
2021
Inserm
2021
Université de Tours
2021
Instituto de Salud Carlos III
2019
We compared acylcarnitine (AcylCN) species, common amino acid and fat oxidation (FOX) byproducts, plasma acids in normal weight (NW; n = 39), obese (OB; 64), type 2 diabetic (n 17) adolescents.Fasting was analyzed by tandem mass spectrometry, body composition dual energy X-ray absorptiometry computed tomography, total-body lipolysis substrate [(2)H(5)]glycerol indirect calorimetry, respectively. In vivo insulin sensitivity (IS) assessed with a 3-h hyperinsulinemic-euglycemic clamp.Long-chain...
The aim of the study was to examine relationship between vitamin D status, total and abdominal adiposity, lipids in black white children.
Niemann-Pick type C (NPC) is a progressive neurodegenerative disease characterized by lysosomal/endosomal accumulation of unesterified cholesterol and glycolipids. Recent studies have shown that plasma cholestane-3β,5α,6β-triol (CT) 7-ketocholesterol (7-KC) could be potential biomarkers for the diagnosis NPC patients. We aimed to know sensitivity specificity these compared with other diseases can potentially lead oxysterol alterations. studied 107 controls 122 patients including 16 NPC, 3...
Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia and common event in acute liver injury/failure chronic disease. Even though hepatic are potential predictive factors patient outcome, easy inexpensive methods aiming at the detection accumulation clinical setting remain unavailable. Thus, herein we have developed morphological method, based on utilization Nessler´s reagent, to accurately precisely detect biological tissue. We validated our method against...
To examine the relationships between plasma 25-hydroxyvitamin D [25(OH)D] and in vivo insulin sensitivity β-cell function relative to sensitivity, disposition index (DI), black white youth.Plasma 25(OH)D concentrations were analyzed banked specimens healthy youth aged 8 18 years who had existing data on hyperinsulinemic-euglycemic hyperglycemic clamp assess secretion, measurements of body composition, abdominal visceral adipose tissue (VAT) subcutaneous (SAT).A total 183 research volunteers...
OBJECTIVE To 1) determine if plasma 25-hydroxyvitamin D (25[OH]D) concentrations differ among obese youth with normal glucose tolerance (NGT) versus prediabetes type 2 diabetes and 2) assess the relationships between 25(OH)D in vivo insulin sensitivity β-cell function this cohort. RESEARCH DESIGN AND METHODS Plasma were examined banked specimens 9- to 20-year-old (n = 175; male 42.3%, black 46.3%) (NGT, n 105; impaired [IGT], 43; diabetes, 27) who had secretion measured by...
BackgroundPropionic acidemia (PA) and methylmalonic (MMA) are inherited errors of metabolism affecting multiple organ systems. The Investigator Global Assessment Severity (IGA-S) instrument was developed to standardize PA MMA severity assessment.MethodsWe employed a 3-round Delphi panel survey methodology align on essential factors for assessing appropriate severity-level definitions. In online surveys, international panelists (n=6) with clinical research experience in PA/MMA assigned...
Background/Objectives: The present study updates the Spanish registry of patients with urea cycle disorders (UCD), originally established in 2013, to provide comprehensive epidemiological data and evaluate impact therapeutic strategies newborn screening (NBS) on clinical outcomes. Methods: This retrospective, multicenter focuses 255 UCD patients. It includes all living deceased cases up February 2024, analyzing demographic, clinical, biochemical variables. Results: incidence Spain over past...
To examine the cross-sectional relationship between blood pressure (BP) and (1) in vivo insulin sensitivity (IS) (2) circulating adiponectin levels overweight adolescents, to determine if these relationships are driven by adiposity.Sixty-five white pubertal adolescents underwent a hyperinsulinemic-euglycemic clamp measure IS. Body composition abdominal adiposity were determined dual energy X-ray absorptiometry computed tomography scan. BP was measured an automated sphygmomanometer every 10...
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...
Many countries do not have a newborn screening (NBS) program, and immigrants from such are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 259 patients (20%) with diagnosed PKU were immigrants, 145 the (55%) born before NBS or in location without NBS.
Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data practice. In order to analyze the GPB practice, here we present a national Spanish experience after direct switching from another nitrogen scavenger GPB. Methods: This observational, retrospective, multicenter study was performed 48 UCD (age 11.7 ± 8.2 years) 13 centers nine regions. Clinical,...
Melatonin is synthesized from serotonin and it excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary a biomarker of brain status cohort patients with mutations genes related biosynthesis. analized 65 healthy subjects 28 genetic defects. A total 18 were studied: 14 autosomal dominant recessive guanosine triphosphate cyclohydrolase-I deficiency; 3 sepiapterin reductase 1 aromatic L-amino acid decarboxylase deficiency. Further 11 studied after receiving serotoninergic treatment...
Hereditary fructose intolerance (HFI) is a rare inborn error of metabolism caused by the deficiency aldolase B. Since treatment consists fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk presenting vitamin deficiencies. Although there no published data on status these vitamins in HFI patients, supplementation with C folic acid common. Therefore, aim this study was to assess folate practices nationwide cohort patients.Vitamin dietary intake, circulating levels...