171 related articles for article (PubMed ID: 37207470)
1. Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD; Leshinski AC; Ducich NH; Flore LA; Lehman A; Shur N; Jayakar PB; Hainline BE; Basinger AA; Wilson WG; Diaz GA; Erbe RW; Koeberl DD; Vockley J; Bedoyan JK
Mol Genet Metab; 2023 Jun; 139(2):107605. PubMed ID: 37207470
[TBL] [Abstract][Full Text] [Related]
2. Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.
Breen C; White FJ; Scott CA; Heptinstall L; Walter JH; Jones SA; Morris AA
Eur J Pediatr; 2014 Mar; 173(3):361-6. PubMed ID: 24114256
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
[TBL] [Abstract][Full Text] [Related]
5. Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin.
Bernhardt I; Van Dorp L; Dixon M; McSweeney M; Gan C; Baruteau J; Chakrapani A
JIMD Rep; 2024 Jan; 65(1):10-16. PubMed ID: 38186850
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Mochel F; DeLonlay P; Touati G; Brunengraber H; Kinman RP; Rabier D; Roe CR; Saudubray JM
Mol Genet Metab; 2005 Apr; 84(4):305-12. PubMed ID: 15781190
[TBL] [Abstract][Full Text] [Related]
9. Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I; Roe CR; Pascual JM
Mol Genet Metab; 2010 Sep; 101(1):9-17. PubMed ID: 20598931
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.
Wexler ID; Kerr DS; Du Y; Kaung MM; Stephenson W; Lusk MM; Wappner RS; Higgins JJ
Pediatr Res; 1998 May; 43(5):579-84. PubMed ID: 9585002
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Triheptanoin for the treatment of brain energy deficit: A 14-year experience.
Mochel F
J Neurosci Res; 2017 Nov; 95(11):2236-2243. PubMed ID: 28688166
[TBL] [Abstract][Full Text] [Related]
14. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
[TBL] [Abstract][Full Text] [Related]
15. Primary amino acid sequence and structure of human pyruvate carboxylase.
Wexler ID; Du Y; Lisgaris MV; Mandal SK; Freytag SO; Yang BS; Liu TC; Kwon M; Patel MS; Kerr DS
Biochim Biophys Acta; 1994 Oct; 1227(1-2):46-52. PubMed ID: 7918683
[TBL] [Abstract][Full Text] [Related]
16. Disorders of pyruvate metabolism.
De Meirleir L
Handb Clin Neurol; 2013; 113():1667-73. PubMed ID: 23622387
[TBL] [Abstract][Full Text] [Related]
17. Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency.
Higgins JJ; Ide SE; Oghalai JS; Polymeropoulos MH
Clin Biochem; 1997 Feb; 30(1):79-81. PubMed ID: 9056115
[No Abstract] [Full Text] [Related]
18. Congenital lactic acidosis associated with pyruvate carboxylase deficiency.
Sagy M; Barzilay Z; Barash V; Oren M; Vardi P; Cohen BE; Gutman A
Isr J Med Sci; 1981 Dec; 17(12):1159-63. PubMed ID: 6799424
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.
Vockley J; Marsden D; McCracken E; DeWard S; Barone A; Hsu K; Kakkis E
Mol Genet Metab; 2015; 116(1-2):53-60. PubMed ID: 26116311
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]