Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.
Fabian BaertlingMatias WagnerTheresa BrunetHemmen SabirDagmar WieczorekThomas MeitingerThomas MeissnerFelix DistelmaierPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
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