2012 Mar 15 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:22420015
Functional and molecular studies in primary carnitine deficiency.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N.
Scholte HR, Rodrigues Pereira R, de Jonge PC, Luyt-Houwen IE, Hedwig M, Verduin M, Ross JD.
J Clin Chem Clin Biochem. 1990 May;28(5):351-7.
PMID:2199596
Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle.
Longo N.
Ann Nutr Metab. 2016;68 Suppl 3:5-9. doi: 10.1159/000448321. Epub 2016 Dec 9.
PMID:27931018
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D.
Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006.
PMID:36810318
Primary carnitine deficiency is a life-long disease.
Crefcoeur LL, Melles MC, Bruning TA, Pereira RR, Langendonk JG.