Literature DB >> 32654958

CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy.

Mahesh Kamate1, Supriya Patil2.   

Abstract

Entities:  

Keywords:  CAD deficiency; Drug-resistant epilepsy; Epileptic encephalopathies; Treatable neurometabolic disorder

Mesh：

Substances：

Year:  2020        PMID： 32654958     DOI： 10.1016/j.pediatrneurol.2020.05.001

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  2 in total

1.  Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.

Authors:  Ali Al-Otaibi; Alaa AlAyed; Asma Al Madhi; Leena Saeed; Bobby G Ng; Hudson H Freeze; Mohammed Almannai
Journal:  Mol Genet Metab Rep       Date:  2021-12-16

2.  A Treatable Genetic Disease Caused by CAD Mutation.

Authors:  Xia Peng; Li-Ping Xia; Hai-Ju Zhang; Jing Zhang; Shi-Qian Yu; Shun Wang; Yu-Ming Xu; Baozhen Yao; Jingping Ye
Journal:  Front Pediatr       Date:  2022-03-09       Impact factor: 3.418
  2 in total

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