Peker A., YAKUT UZUNER S., ALTIOK CLARK Ö., Dal Demirelli G., Akcan Paksoy B., Soyuçen E., ...More
Molecular Syndromology, pp.1-14, 2025 (SCI-Expanded, Scopus)
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Publication Type:
Article / Article
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Publication Date:
2025
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Doi Number:
10.1159/000548834
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Journal Name:
Molecular Syndromology
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
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Page Numbers:
pp.1-14
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Keywords:
Genetic variants, Hyperphenylalaninemia, Metabolism, PAH, Phenylketonuria, Sapropterin, Tetrahydrobiopterin
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Akdeniz University Affiliated:
Yes