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Celiac Male’s Gluten-Free Diet Profile: Comparison to that of the Control Population and Celiac Women
(MDPI, 2018-11)
The aim of the present work was to analyze the body composition and dietary profile of Spanish celiac men and to compare them to control men and celiac women from our previous studies. Forty-two celiac men (31.5 +/- 11.9 ...
Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas
(Elsevier, 2021-07)
[ES] La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica ...
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
(Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
Iodine Deficiency and Mortality in Spanish Adults: Di@bet.es Study
(Mary Ann Liebert, 2021-01-01)
Background:Longitudinal data assessing the impact of iodine deficiency (ID) on mortality are scarce. We aimed to study the association between the state of iodine nutrition and the risk of total and cause-specific mortality ...
Association between long term exposure to particulate matter and incident hypertension in Spain
(Nature Research, 2021-10-05)
[EN]Exposure to air particulate matter has been linked with hypertension and blood pressure levels. The metabolic risks of air pollution could vary according to the specific characteristics of each area, and has not been ...
Serum vascular endothelial growth factor b and metabolic syndrome incidence in the population based cohort Di@bet.es study
(SpringerNature, 2022)
Background/Objectives Although vascular endothelial growth factor b (VEGFb) might have an impact on the development of obesity, diabetes and related disorders, the possible relationship between VEGFb serum levels and the ...
Ambient air pollution and thyroid function in Spanish adults. A nationwide population-based study (Di@bet.es study)
(BMC, 2022)
Background Recent reports have suggested that air pollution may impact thyroid function, although the evidence is still scarce and inconclusive. In this study we evaluated the association of exposure to air pollutants to ...
Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia
(Public Library Science, 2020-09-30)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining ...
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
(Public Library Science, 2017-03-13)
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 the chloride channel protein ClC-Kb. In this study, we ...
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
(Oxford Academic, 2019)
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been ...