Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

Background: Despite international initiatives on collaboration within the field of rare
diseases, patient access to orphan medicinal products (OMPs) and healthcare services …

Cardiovascular diseases burden is increasing due to aging populations and represents one
of the major health issues worldwide. Dietary habits have been extensively studied in the …

Inborn errors of metabolism are single gene disorders resulting from the defects in the
biochemical pathways of the body. Although these disorders are individually rare …

Even in this post genomic era, no national level newborn screening (NBS) programs for
inborn errors of metabolism (IEMs) are yet available in several developing countries …

Background Mothers of infants with special care needs experience multiple transitions, as
their babies are diagnosed with congenital anomalies and hospitalized during their …

Bloodspot screening in newborns is an exemplary public health intervention as it is essential
secondary prevention with proven efficacy and benefit for the early diagnosis and prompt …

Background Biotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in
carboxylation reactions. Biotinidase (BTD) catalyzes the recycling of biotin from endogenous …

Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this
study was to assess epidemiological factors of PKU phenotypes in a neonatal screening …

Öz Ülkemizde akraba evlilikleri çok görülmektedir. Bu da çeşitli doğumsal metabolik
hastalıkları beraberinde getirmektedir. Doğumsal metabolik hastalıkların erken dönemde …