Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.

Jurecka, Agnieszka; Tylki-Szymanska, Anna

Jurecka, Agnieszka; Tylki-Szymanska, Anna.

Affiliation

Jurecka A; CoA Therapeutics, Palo Alto, CA, USA. Electronic address: ajurecka@gmail.com.
Tylki-Szymanska A; The Children's Memorial Health Institute, Warsaw, Poland.

Mol Genet Metab ; 136(3): 164-176, 2022 07.

Article in En | MEDLINE | ID: mdl-35216884

Subject(s)

Purine-Pyrimidine Metabolism, Inborn Errors; Child; Family; Humans; Infant; Purine-Pyrimidine Metabolism, Inborn Errors/diagnosis; Purine-Pyrimidine Metabolism, Inborn Errors/genetics; Purine-Pyrimidine Metabolism, Inborn Errors/metabolism; Purines/metabolism; Pyrimidines/metabolism; Risk Factors

Key words

Encephalopathy; Hypotonia; Myopathy; Purines; Pyrimidines; Seizures

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Purine-Pyrimidine Metabolism, Inborn Errors Type of study: Diagnostic_studies / Etiology_studies / Guideline / Risk_factors_studies Limits: Child / Humans / Infant Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2022 Type: Article

Fulltext

XML

PubMed Links

Search on Google