Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase

Feda E. Mohamed(United Arab Emirates University), Fatma Al‐Jasmi(United Arab Emirates University), Praseetha Kizhakkedath(Institut thématique Génétique, génomique et bioinformatique), Lara Alzyoud(Al Ain University), Mohammad A. Ghattas(Al Ain University), Matthew J. Farrer(University of Florida), Mohammed Tabouni(United Arab Emirates University), Ibrahim Baydoun(École Normale Supérieure Paris-Saclay), Qudsia Shaukat(Tawam Hospital), Rim Amouri(Tunis University), Samia Ben Sassi(Institut National de Santé Publique), Hiba Alblooshi(United Arab Emirates University), André Fienemann(University of Lübeck), Joanne Trinh(University of Lübeck)
International Journal of Molecular Sciences
March 27, 2025
Cited by 0


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