Title : SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.

Pub. Date : 2021 Feb 11

PMID : 33573605






1 Functional Relationships(s)
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Protein Name
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1 Analysis of serum amino acid levels revealed that two SPG9A patients and two unaffected family members had low citrulline levels and one had a low level of ornithine. Ornithine aldehyde dehydrogenase 18 family member A1 Homo sapiens