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Year Number of Results
2002 1
2008 1
2009 1
2010 2
2011 1
2012 2
2013 3
2014 1
2015 1
2016 1
2017 1
2018 2
2020 2
2021 1
2024 0

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16 results

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Page 1
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.
Lamari F, Mochel F, Sedel F, Saudubray JM. Lamari F, et al. J Inherit Metab Dis. 2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20. J Inherit Metab Dis. 2013. PMID: 22814679 Review.
Spastic paraplegia and muscle wasting are also seen in patients with mutations in the neuropathy target esterase gene. (2) Peripheral neuropathy is a prominent feature in PHARC syndrome due to alpha/beta-hydrolase 12 deficiency, and in hereditary sensory autonomic neuropathy type …
Spastic paraplegia and muscle wasting are also seen in patients with mutations in the neuropathy target esterase gene. (2) Peripheral neurop …
Crucial role of CGI-58/alpha/beta hydrolase domain-containing protein 5 in lipid metabolism.
Yamaguchi T. Yamaguchi T. Biol Pharm Bull. 2010;33(3):342-5. doi: 10.1248/bpb.33.342. Biol Pharm Bull. 2010. PMID: 20190389 Free article. Review.
CGI-58 (also called alpha/beta hydrolase domain-containing protein 5 (ABHD5)) is a member of the alpha/beta-hydrolase family of proteins and is a product of the causal gene of Chanarin-Dorfman syndrome (CDS), which is characterized by excessive storage of tri …
CGI-58 (also called alpha/beta hydrolase domain-containing protein 5 (ABHD5)) is a member of the alpha/beta-hydrolase family of proteins and …
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Yamaguchi T, Osumi T. Yamaguchi T, et al. Biochim Biophys Acta. 2009 Jun;1791(6):519-23. doi: 10.1016/j.bbalip.2008.10.012. Epub 2008 Nov 12. Biochim Biophys Acta. 2009. PMID: 19061969 Review.
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disease of lipid metabolism; it is associated with congenital ichthyosis typed as non-bullous congenital ichthyosiform erythroderma (NCIE). ...
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disease of lipid metabolism; it is associated with congen
An overview of epidermal lamellar bodies: Novel roles in biological adaptations and secondary barriers.
Menon GK, Lee SE, Lee SH. Menon GK, et al. J Dermatol Sci. 2018 Oct;92(1):10-17. doi: 10.1016/j.jdermsci.2018.03.005. Epub 2018 Mar 8. J Dermatol Sci. 2018. PMID: 30153959 Review.
We suggest that LB polymorphism reflects a wide array of barrier adaptations to environmental challenges, rather than just a defective barrier function, based on observations on a) LB morphology in inherited skin disorders of lipid metabolism (Refsum disease, Chanarin-D
We suggest that LB polymorphism reflects a wide array of barrier adaptations to environmental challenges, rather than just a defective barri …
Lipid storage myopathy.
Liang WC, Nishino I. Liang WC, et al. Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. Curr Neurol Neurosci Rep. 2011. PMID: 21046290 Review.
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E, Bagci G. Cakmak E, et al. Liver Int. 2021 May;41(5):905-914. doi: 10.1111/liv.14794. Epub 2021 Mar 18. Liver Int. 2021. PMID: 33455044 Review.
The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. ...
The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. ...
Inherited ichthyosis: Syndromic forms.
Yoneda K. Yoneda K. J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. J Dermatol. 2016. PMID: 26945533 Review.
16 results