A5073878504- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Liver Disease Diagnosis and Treatment
- Diet, Metabolism, and Disease
- Renal cell carcinoma treatment
- Metabolism and Genetic Disorders
- Tuberous Sclerosis Complex Research
- Vitamin C and Antioxidants Research
- Glycogen Storage Diseases and Myoclonus
- Digestive system and related health
- Glycosylation and Glycoproteins Research
- Muscle Physiology and Disorders
- Renal and related cancers
- Neurobiology of Language and Bilingualism
- Trypanosoma species research and implications
- GDF15 and Related Biomarkers
- Linguistics and Discourse Analysis
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Amino Acid Enzymes and Metabolism
- Child Nutrition and Feeding Issues
- Reading and Literacy Development
- Folate and B Vitamins Research
- Cancer, Lipids, and Metabolism
- Neonatal Health and Biochemistry
- Hepatitis C virus research
Hospital Universitario 12 De Octubre
1997-2024
Research Institute Hospital 12 de Octubre
2019-2023
Centre for Biomedical Network Research on Rare Diseases
2021-2023
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,...
Management of Gaucher disease (GD) is challenging due to its wide genotypic and phenotypic variability changing clinical manifestations effective treatment. Sixteen face-to-face meetings with experts were held in order discuss daily practice identify controversies regarding the management GD. With this information, a questionnaire 93 recommendations for different scenarios was designed, Delphi survey among 86 physicians experience GD conducted. Consensus reached on 73 out items....
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...
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present abnormal transferrin (Tf) glycosylation pattern due to inhibition mannose-6-phosphate isomerase fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow prompt detection HFI. The CDT...
Tuberous sclerosis complex (TSC) is a rare, hereditary, multisystemic disease with broad phenotypic spectrum. Its management requires the collaboration of multiple specialists. Just as in paediatric age, neurologist takes on special importance; adulthood, renal involvement cause greatest morbidity and mortality. There are several recommendations general patients TSC but none that focuses involvement. These respond to need provide guidelines facilitate better knowledge diagnostic-therapeutic...
El complejo esclerosis tuberosa (CET) es una enfermedad rara, hereditaria, multisistémica y con un amplio espectro fenotípico. Su manejo requiere de la colaboración múltiples especialistas. Así como en edad pediátrica cobra especial relieve el neurólogo pediatra, adulta afectación renal causante mayor morbimortalidad. Existen diversas recomendaciones sobre general del paciente CET, pero ninguna que se centre renal. Las presentes responden a necesidad proporcionar pautas para facilitar mejor...
of HDL cholesterol and slowing progression chronic kidney disease.
Introduction: Phenylketonuria (PKU) is an inborn error in phenylalanine metabolism that can cause irreversible brain damage if it untreated. In the last decades, prognosis of this disease has evolved due partly to introduction newborn screening (NBS) programs and recommendation lifelong treatment. However, despite significant number adults with PKU, available evidence about group patients limited.Areas covered: The aim review describe main challenges current management PKU adults, discussing...
Abstract Alkaptonuria is a rare autosomal recessive metabolic disorder with wide systemic involvement including pigment deposition. We present an unusual case diagnosed by image obtained via telemedicine showing deposition in the earlobe. highlight how this clue may allow prompt diagnosis of alkaptonuria and prevent disease progression. Click https://www.wileyhealthlearning.com/#/online-courses/5da3bb51-40d1-4d42-9c4b-610d68106e25 for corresponding questions to CME article.