Open AccessMisleading Organic Acid Excretion in MAT Deficiency: Third Case of C.951C>T Compound Heterozygosity
Author(s) -
Marine Baillat,
Aline Cano,
Cécile Acquaviva,
Florent Darriet,
Marguerite Gastaldi,
B. Chabrol
Publication year - 2019
Publication title -
annals of case reports
Language(s) - English
Resource type - Journals
ISSN - 2574-7754
DOI - 10.29011/2574-7754/100290
Subject(s) - loss of heterozygosity , excretion , compound heterozygosity , medicine , chemistry , endocrinology , biochemistry , allele , gene