HIGHLIGHTS
- What: The authors identified and characterized two siblings from Taiwan with PAICS deficiency who were born at term after an uncomplicated pregnancy and delivery and presented later in life with progressive cerebral atrophy, early-onset epileptic encephalopathy, psychomotor retardation, and retinopathy.
- Who: Wen-Chin Weng from the (UNIVERSITY) have published the research: Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases, in the Journal: (JOURNAL) of 12/07/2024
SUMMARY
Biochemical Participants and clinical examination Two affected siblings were identified and received clinical assessments including laboratory examinations including . . .
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