Clinical utility gene card for: Phenylketonuria

Gene, 2012

Revista Paulista de Pediatria, 2020

Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the “salting-out” method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. Results: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight all...

Journal of Inborn Errors of Metabolism and Screening

SpringerPlus, 2015

Clinical Genetics, 2008

Clinical Biochemistry, 2014

Clinica Chimica Acta, 2006

Academia Letters, 2021

2024

Turkey is a country of perennial importance for multiple world regions (notably Europe, the Middle East and North Africa, and Western and Central Asia). A review of the century-long social and political history of the Turkish Republic is valuable for understanding not only processes and relationships that converge at the national or subnational scale but also processes and relationships that far exceed the territorial boundaries of Turkey. Our course examines historical and contemporary processes and patterns of social and political life in Turkey. This course is organized around key themes in the study of Turkey, including nation building, state formation, social-cultural difference, popular culture and cultural production, political violence, and landscape change. Our learning will draw from multiple disciplines and fields of study including anthropology, art and architectural history, cultural studies, geography, and political science. Informed by an interdisciplinary literature, most of our learning will focus on dynamics within the national territory or at sub-national scales (for example, particular urban regions, cities, or provinces). In addition to developing a command of these dynamics in national context, we will also learn to situate the perspectives of the authors we are reading in wider fields of debate. Beyond the national scale, you will also develop an understanding of Turkey that illuminates ongoing and headline-grabbing dynamics at larger scales. Turkey is a country of enormous geo-strategic importance. You can accordingly anticipate developing proficiency in, among other things, debate around the composition of the North Atlantic Treaty Organization (NATO), Turkey’s fraught relationship with the European Union (EU), a much-heralded rapprochement of Greece and Turkey in the Aegean, the enduring conflicts and shifts in population geography related to the Syrian civil war, and geoeconomic and geopolitical realignments that are prompted and tested by intensification of the Israeli-Palestinian conflict and regional tensions in the wider Eastern Mediterranean.

2023 IEEE 10th International Conference on Data Science and Advanced Analytics (DSAA), 2023