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Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

Mohammed M. Saleh, Abdulrahim M. Hamhom,Ali Al-Otaibi,Malak Alghamdi,Yousef Housawi,Yaser I. Aljadhai,Seham Alameer,Mohammed Almannai, Lamyaa A. Jad, Ali H. Alwadei,Sadia Tabassum,Abdulaziz Alsaman,Ali Alasmari,Fuad Al Mutairi, Hamad Althiyab,Fahad A. Bashiri, Suzan Alhumaidi,Majid Alfadhel,Jonathan W. Mink,Aqeela Alhashim, Eissa A. Faqeih

PEDIATRIC NEUROLOGY（2024）

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关键词
Consanguinity,Inherited metabolic diseases,Neuronal ceroid lipofuscinoses,Next-generation sequencing,Recessive diseases,Saudi Arabia
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