These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis. Almomen M; Sinclair G; Stockler-Ipsiroglu SG; Horvath GA Neuropediatrics; 2018 Dec; 49(6):369-372. PubMed ID: 30045381 [TBL] [Abstract][Full Text] [Related]
4. A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. Schiff M; Levrat V; Acquaviva C; Vianey-Saban C; Rolland MO; Guffon N Mol Genet Metab; 2006 Feb; 87(2):175-7. PubMed ID: 16325442 [TBL] [Abstract][Full Text] [Related]
5. Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B. Xue M Front Endocrinol (Lausanne); 2023; 14():1199590. PubMed ID: 37484962 [TBL] [Abstract][Full Text] [Related]
6. Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Coci EG; Gapsys V; Shur N; Shin-Podskarbi Y; de Groot BL; Miller K; Vockley J; Sondheimer N; Ganetzky R; Freisinger P Hum Mutat; 2019 Jun; 40(6):816-827. PubMed ID: 30870574 [TBL] [Abstract][Full Text] [Related]
7. Disorders of pyruvate metabolism. De Meirleir L Handb Clin Neurol; 2013; 113():1667-73. PubMed ID: 23622387 [TBL] [Abstract][Full Text] [Related]
8. Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency. Demir Köse M; Colak R; Yangin Ergon E; Kulali F; Yildiz M; Alkan S; Atilgan T; Aslan F; Brown R; Brown G; Serdaroğlu E; Çalkavur S J Pediatr Endocrinol Metab; 2020 Apr; 33(4):569-574. PubMed ID: 32145058 [TBL] [Abstract][Full Text] [Related]
9. Isovaleric acidemia presenting as diabetic ketoacidosis: a case report. Kılıç M; Kaymaz N; Özgül RK J Clin Res Pediatr Endocrinol; 2014; 6(1):59-61. PubMed ID: 24637313 [TBL] [Abstract][Full Text] [Related]
15. Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms. Rutledge SL; Snead OC; Kelly DR; Kerr DS; Swann JW; Spink DL; Martin DL Pediatr Neurol; 1989; 5(4):249-52. PubMed ID: 2553027 [TBL] [Abstract][Full Text] [Related]
16. In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency. Maryami F; Rismani E; Davoudi-Dehaghani E; Khalesi N; Talebi S; Mahdian R; Zeinali S Iran Biomed J; 2023 Sep; 27(5):307-19. PubMed ID: 37873728 [TBL] [Abstract][Full Text] [Related]
17. Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. Stern HJ; Nayar R; Depalma L; Rifai N Clin Biochem; 1995 Feb; 28(1):85-9. PubMed ID: 7720232 [TBL] [Abstract][Full Text] [Related]