Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review

6-pyruvoyl tetrahydropterin synthase deficiency (PTPSD) is a rare neurometabolic disease that can be diagnosed in newborn screening (NBS) and is part of the family of tetrahydrobiopterin deficiency disorders (BH4Ds). It is essential to diagnose and treat this disease early to prevent permanent neuro...

Descripción completa

Detalles Bibliográficos
Autores principales: Sur, Lucia Maria, Mager, Monica Alina, Bolunduţ, Alexandru-Cristian, Trifa, Adrian-Pavel, Anton-Păduraru, Dana Teodora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136628/
https://www.ncbi.nlm.nih.gov/pubmed/37189976
http://dx.doi.org/10.3390/children10040727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136628/
https://www.ncbi.nlm.nih.gov/pubmed/37189976
http://dx.doi.org/10.3390/children10040727

Ejemplares similares