Combined Oxidative Phosphorylation Deficiency 52 (COXPD52)

Combined Oxidative Phosphorylation Deficiency 52(来自ICD-11)

别称:

Coxpd52

Combined Oxidative Phosphorylation Deficiency, Type 52

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Combined Oxidative Phosphorylation Deficiency 52, is also known as coxpd52. An important gene associated with Combined Oxidative Phosphorylation Deficiency 52 is NFS1 (NFS1 Cysteine Desulfurase). Affiliated tissues include liver and heart, and related phenotypes are hypotonia and aminoaciduria

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