Systemic Primary Carnitine Deficiency (CDSP)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1795-1
Reference9 articles.
1. Das AM, Steuerwald U, Illsinger S (2010) Inborn errors of energy metabolism associated with myopathies. J Biomed Biotechnol 2010:340849. https://doi.org/10.1155/2010/340849
2. El-Hattab AW, Scaglia F (2015) Disorders of carnitine biosynthesis and transport. Mol Genet Metab 116:107–112. https://doi.org/10.1016/j.ymgme.2015.09.004
3. Karpati G et al (1975) The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology 25:16–24. https://doi.org/10.1212/wnl.25.1.16
4. Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ (2010) Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat 31:E1632–E1651. https://doi.org/10.1002/humu.21311
5. Lin Y, Lin B, Chen Y, Zheng Z, Fu Q, Lin W, Zhang W (2021) Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening. Orphanet J Rare Dis 16:503. https://doi.org/10.1186/s13023-021-02126-3
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