scholarly journals A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report

2021 ◽  
Author(s):  
Yan Wen ◽  
Guoyan Lu ◽  
Lina Qiao ◽  
Yifei Li
Keyword(s):  
Case Report ◽  
Infant Death ◽  
Leigh Syndrome ◽  
Compound Heterozygous ◽  
Early Infant ◽  
Compound Heterozygous Mutations

scholarly journals Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

2021 ◽  
Vol 9 (3) ◽  
pp. 623-631
Author(s):  
Lan-Xiao Cao ◽  
Ying Liu ◽  
Zhao-Jun Song ◽  
Bao-Rong Zhang ◽  
Wen-Ying Long ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Review Of Literature ◽  
Compound Heterozygous Mutations

scholarly journals A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Robin Chautard ◽  
Cécile Laroche-Raynaud ◽  
Anne-Sophie Lia ◽  
Pauline Chazelas ◽  
Paco Derouault ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Compound Heterozygous ◽  
Mild Form ◽  
Compound Heterozygous Mutations
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