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8. Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. Carbone MA; Applegarth DA; Robinson BH Hum Mutat; 2002 Jul; 20(1):48-56. PubMed ID: 12112657 [TBL] [Abstract][Full Text] [Related]
9. [Disorders of pyruvate metabolism and TCA cycle]. Kuroda Y Ryoikibetsu Shokogun Shirizu; 2001; (36):95-9. PubMed ID: 11596462 [No Abstract] [Full Text] [Related]
10. 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]
12. The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Robinson BH; Oei J; Sherwood WG; Applegarth D; Wong L; Haworth J; Goodyer P; Casey R; Zaleski LA Am J Hum Genet; 1984 Mar; 36(2):283-94. PubMed ID: 6424438 [TBL] [Abstract][Full Text] [Related]
13. Defects of pyruvate metabolism and the Krebs cycle. De Meirleir L J Child Neurol; 2002 Dec; 17 Suppl 3():3S26-33; discussion 3S33-4. PubMed ID: 12597053 [TBL] [Abstract][Full Text] [Related]
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15. [Inherited metabolic diseases associated with West syndrome]. Wada K; Sakuragawa N Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):283-7. PubMed ID: 12483882 [No Abstract] [Full Text] [Related]
16. Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. García-Cazorla A; Rabier D; Touati G; Chadefaux-Vekemans B; Marsac C; de Lonlay P; Saudubray JM Ann Neurol; 2006 Jan; 59(1):121-7. PubMed ID: 16278852 [TBL] [Abstract][Full Text] [Related]
17. 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]
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20. The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. Wang D; Yang H; De Braganca KC; Lu J; Yu Shih L; Briones P; Lang T; De Vivo DC Mol Genet Metab; 2008; 95(1-2):31-8. PubMed ID: 18676167 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]