Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference21 articles.
1. An international classification of inherited metabolic disorders (ICIMD);Ferreira;J. Inherit. Metab. Dis.,2020
2. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999
3. Neonatal presentation of adult-onset type II citrullinemia;Ohura;Hum. Genet.,2001
4. Genotypic and phenotypic features of citrin deficiency: five-year experience in a chinese pediatric center;Song;Int. J. Mol. Med.,2011
5. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria;Palmieri;EMBO J.,2001
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