A5020511748- Dermatological and COVID-19 studies
- Nail Diseases and Treatments
- Parathyroid Disorders and Treatments
- Magnesium in Health and Disease
- Autoimmune Bullous Skin Diseases
- Vascular Malformations and Hemangiomas
- Dialysis and Renal Disease Management
- Biomedical Research and Pathophysiology
- Streptococcal Infections and Treatments
- Renal function and acid-base balance
- Pediatric Urology and Nephrology Studies
- Pancreatic function and diabetes
- Glycosylation and Glycoproteins Research
- Ion channel regulation and function
- Ion Transport and Channel Regulation
- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Organ Transplantation Techniques and Outcomes
- Academic integrity and plagiarism
- Emergency and Acute Care Studies
- Pancreatic and Hepatic Oncology Research
- Renal and related cancers
- Liver Disease and Transplantation
- Health and Lifestyle Studies
- Blood Pressure and Hypertension Studies
Hospital Universitario Reina Sofía
2013-2024
Instituto Maimónides de Investigación Biomédica de Córdoba
2023
University of Córdoba
2023
Hospital Central de la Defensa Gómez Ulla
2023
Sociedade Brasileira de Pediatria
2019-2022
Professional Publishers Association
2017
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis five informative identified a single significant locus on chromosome 16p13.2 (logarithm odds score 6.5). Sequencing the coding regions all linked genes failed to identify biallelic mutations. Instead, we...
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium calcium excretion chronic kidney failure. This rare disease caused mutations in the CLDN16 CLDN19 genes. These genes encode tight junction proteins claudin-16 claudin-19, respectively, which regulate paracellular ion reabsortion kidney. Patients gene also present severe visual impairment. Our goals this study were to examine clinical...
Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple respiratory chain defects.We summarised clinical, biochemical and molecular genetic investigation of an international cohort affected individuals with mutations. In addition, we reviewed all previously published cases determine genotype-phenotype correlates performed survival analysis identify prognostic factors.We...
Abstract Background X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets growth retardation are the major manifestations XLH children, but there broad phenotypic variability. Few publications have reported large series patients. Current data on clinical spectrum disease, correlation with underlying mutations, long-term outcome patients conventional treatment needed,...
Dent's disease is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The caused mutations in the X-linked chloride channel CLCN5 gene, which encodes a 746-amino-acid protein expressed tubules. These have been reported unrelated families from UK, USA, Japan other countries. We were interested identifying additional coding region of Spanish patients with disease.Five three studied. Leukocyte genomic DNA...
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 expressed the basolateral membrane kidney tubules where it reabsorption. A total four patients, two them with a suspected disorder calcium metabolism, and patients clinical diagnosis primary tubulopathy were screened mutations by...
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive tubular disorder characterized by excessive renal magnesium calcium excretion chronic kidney failure.This rare disease caused mutations in the CLDN16 CLDN19 genes.These genes encode tight junction proteins claudin-16 claudin-19, respectively, which regulate paracellular ion reabsortion kidney.Patients gene also present severe visual impairment.Our goals this study were to examine clinical...
The association of hyperinsulinaemic hypoglycaemia (HH) and polycystic kidneys has not been reported before. Here, the authors studied 17 patients from 11 different families found that all had a combination HH kidneys. was mild some required diazoxide therapy. In contrast kidney disease severe in few liver cysts as well. None described any neurological phenotype. Recessive loss function mutations phosphomannomutase 2 gene (PMM2) lead to multisystem disorder called congenital glycosylation...