PubMed for Bookshelf ID: 2869936

Year	Number of Results
1999	1
2001	1
2003	2
2006	2
2007	3
2008	2
2009	1
2010	4
2011	2
2012	3
2013	1
2014	2
2015	1
2022	1
2024	0

1

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

2

Disorders of carnitine biosynthesis and transport.

El-Hattab AW, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Nov;116(3):107-12. doi: 10.1016/j.ymgme.2015.09.004. Epub 2015 Sep 10. Mol Genet Metab. 2015. PMID: 26385306 Review.

3

Gestational age and age at sampling influence metabolic profiles in premature infants.

Clark RH, Kelleher AS, Chace DH, Spitzer AR. Clark RH, et al. Pediatrics. 2014 Jul;134(1):e37-46. doi: 10.1542/peds.2014-0329. Epub 2014 Jun 9. Pediatrics. 2014. PMID: 24913786

4

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

Rasmussen J, Nielsen OW, Janzen N, Duno M, Gislason H, Køber L, Steuerwald U, Lund AM. Rasmussen J, et al. J Inherit Metab Dis. 2014 Mar;37(2):215-22. doi: 10.1007/s10545-013-9606-2. Epub 2013 May 8. J Inherit Metab Dis. 2014. PMID: 23653224

5

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

De Biase I, Champaigne NL, Schroer R, Pollard LM, Longo N, Wood T. De Biase I, et al. JIMD Rep. 2012;2:87-90. doi: 10.1007/8904_2011_52. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430858 Free PMC article.

6

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.

Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Sep 18;7:68. doi: 10.1186/1750-1172-7-68. Orphanet J Rare Dis. 2012. PMID: 22989098 Free PMC article. Review.

7

Genotype-phenotype correlation in primary carnitine deficiency.

Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. Rose EC, et al. Hum Mutat. 2012 Jan;33(1):118-23. doi: 10.1002/humu.21607. Epub 2011 Oct 11. Hum Mutat. 2012. PMID: 21922592 Free PMC article.

8

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.

Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Li FY, et al. Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311. Hum Mutat. 2010. PMID: 20574985

9

Role of carnitine in disease.

Flanagan JL, Simmons PA, Vehige J, Willcox MD, Garrett Q. Flanagan JL, et al. Nutr Metab (Lond). 2010 Apr 16;7:30. doi: 10.1186/1743-7075-7-30. Nutr Metab (Lond). 2010. PMID: 20398344 Free PMC article.

10

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.

Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, Huang AC, Hwu WL. Lee NC, et al. Mol Genet Metab. 2010 May;100(1):46-50. doi: 10.1016/j.ymgme.2009.12.015. Epub 2009 Dec 28. Mol Genet Metab. 2010. PMID: 20074989

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