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Article

The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.

European journal of pediatrics - 22 Dec 2024

İlgüy Müge, Yıldırım Gonca Kılıç, Eyüboğlu Damla, Çarman Kürşat Bora, Yarar Coşkun

Abstract excerpt

Phenylalanine (PA) levels below 360 µmol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening...

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PMID: 39710741
DOI: 10.1007/s00431-024-05929-1

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