PubMed for Bookshelf ID: 1521768

Year	Number of Results
1977	1
1991	1
1995	1
1997	1
1998	1
1999	2
2001	1
2002	1
2005	1
2006	2
2008	2
2015	1
2017	1
2024	0

1

Triheptanoin for the treatment of brain energy deficit: A 14-year experience.

Mochel F. Mochel F. J Neurosci Res. 2017 Nov;95(11):2236-2243. doi: 10.1002/jnr.24111. Epub 2017 Jul 8. J Neurosci Res. 2017. PMID: 28688166 Review.

2

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.

3

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. Wang D, et al. Mol Genet Metab. 2008 Sep-Oct;95(1-2):31-8. doi: 10.1016/j.ymgme.2008.06.006. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676167 Free PMC article.

4

Mitochondrial disorders in the nervous system.

DiMauro S, Schon EA. DiMauro S, et al. Annu Rev Neurosci. 2008;31:91-123. doi: 10.1146/annurev.neuro.30.051606.094302. Annu Rev Neurosci. 2008. PMID: 18333761 Review.

5

Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential.

Roe CR, Mochel F. Roe CR, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):332-40. doi: 10.1007/s10545-006-0290-3. J Inherit Metab Dis. 2006. PMID: 16763896 Review.

6

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. García-Cazorla A, et al. Ann Neurol. 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. Ann Neurol. 2006. PMID: 16278852

7

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. Mochel F, et al. Mol Genet Metab. 2005 Apr;84(4):305-12. doi: 10.1016/j.ymgme.2004.09.007. Mol Genet Metab. 2005. PMID: 15781190

8

Pyruvate carboxylase deficiency--insights from liver transplantation.

Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH. Nyhan WL, et al. Mol Genet Metab. 2002 Sep-Oct;77(1-2):143-9. doi: 10.1016/s1096-7192(02)00123-3. Mol Genet Metab. 2002. PMID: 12359142

9

Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype.

Arnold GL, Griebel ML, Porterfield M, Brewster M. Arnold GL, et al. Clin Pediatr (Phila). 2001 Sep;40(9):519-21. doi: 10.1177/000992280104000909. Clin Pediatr (Phila). 2001. PMID: 11583052 No abstract available.

10

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL. Ahmad A, et al. Am J Med Genet. 1999 Dec 3;87(4):331-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<331::aid-ajmg10>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10588840

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