Volume : XV, Issue : VI, June - 2025

A Case Report Of Primary Carnitine Deficiency, Homozygous Pathogenic Variant In SLC22A5, Presenting As Acute Hyperammonemic Encephalopathy

Swetha Rampally, Naveen Reddy G

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Article: Download PDF    DOI : 10.36106/ijar/4500901  

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A CASE REPORT OF PRIMARY CARNITINE DEFICIENCY, HOMOZYGOUS PATHOGENIC VARIANT IN SLC22A5, PRESENTING AS ACUTE HYPERAMMONEMIC ENCEPHALOPATHY, Swetha Rampally, Naveen Reddy G INDIAN JOURNAL OF APPLIED RESEARCH : Volume-15 | Issue-6 | June-2025


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