Glutaric Acidemia Type I: Diagnosis and Management
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-030-94510-7_19
Reference40 articles.
1. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a “new” disorder of amino acid metabolism. Biochem Med. 1975;12(1):12–21.
2. Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006;59(6):840–7.
3. Boy N, Muhlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017;40(1):75–101.
4. Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996;27(3):115–23.
5. Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res. 2000;48(3):315–22.
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