Publications by authors named "Ana Isabel Vega"
Article Synopsis
- Chronic hypophosphatemia can be caused by various acquired disorders and genetic factors, but there is a lack of awareness regarding genetic causes in adults.
- A study reviewed lab data from over 800,000 phosphorus analyses, focusing on patients aged 17-55 with low serum phosphorus, confirming hypophosphatemia in 39 individuals after excluding other causes.
- The researchers found 14 patients with genetic variants linked to phosphate metabolism, with X-linked hypophosphatemia (XLH) being the most prevalent genetic cause, often presenting with noticeable skeletal issues.
Article Synopsis
- Alport syndrome (AS) is a genetic disorder with varying severity, categorized into X-linked, autosomal recessive, and autosomal dominant forms, each showing different clinical traits and progression.
- This study analyzed 317 patients with autosomal dominant AS (ADAS) carrying mutations in COL4A3/4, revealing that most patients showed early symptoms like urinalysis changes before age 40, with adverse kidney events common between ages 30-70.
- Findings indicate significant sex differences in the onset of end-stage kidney disease (ESKD), with males experiencing deterioration earlier than females, underscoring the need for consistent monitoring of patients with these mutations.
Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the diagnosis rate for this highly heterogeneous allelic condition remains low. The present work reports our group's experience of using a clinical/biochemical analysis system in conjunction with genetic findings that facilitates the taking of timely clinical decisions with minimum need for invasive procedures.
View Article and Find Full Text PDFDeficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis. PMM2 activity assay revealed the presence of six protein changes with no enzymatic activities (p.
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