November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
3 citations,
January 2019 in “Elsevier eBooks” Pharmacists should interpret lab data and perform physical exams to improve patient care.
February 2019 in “Neoreviews” The infant with a urea cycle disorder improved with treatment and a liver transplant.
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November 2013 in “European Journal of Epidemiology” The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.