Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency

Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in de novo l-serine biosynthesis: PHGDH, PSAT1, and PSPH. l-Serine is essentia...

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Detalhes bibliográficos
Publicado no:J Lipid Res
Main Authors: Takeichi, Takuya, Okuno, Yusuke, Kawamoto, Akane, Inoue, Takeshi, Nagamoto, Eiko, Murase, Chiaki, Shimizu, Eri, Tanaka, Kenichi, Kageshita, Yuichi, Fukushima, Satoshi, Kono, Michihiro, Ishikawa, Junko, Ihn, Hironobu, Takahashi, Yoshiyuki, Akiyama, Masashi
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2018
Assuntos:
Patient-Oriented and Epidemiological Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6277160/
https://ncbi.nlm.nih.gov/pubmed/30348640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.P087536
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