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Table representation of search results timeline featuring number of search results per year.

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
2023 0

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16 results

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Page 1
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 variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an impo …
The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. ...The variability of c …
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.
Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjogren-Larsson syndrome, Conradi-Hunermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicu …
Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, S …
iPS cell modeling of cardiometabolic diseases.
Nakamura K, Hirano K, Wu SM. Nakamura K, et al. J Cardiovasc Transl Res. 2013 Feb;6(1):46-53. doi: 10.1007/s12265-012-9413-4. Epub 2012 Oct 16. J Cardiovasc Transl Res. 2013. PMID: 23070616 Free PMC article. Review.
Cardiometabolic diseases encompass simple monogenic enzyme deficiencies with well-established pathogenesis and clinical outcomes to complex polygenic diseases such as the cardiometabolic syndrome. The limited availability of relevant human cell types such as cardiomyocytes …
Cardiometabolic diseases encompass simple monogenic enzyme deficiencies with well-established pathogenesis and clinical outcomes to complex …
Chanarin-Dorfman syndrome: A case report and review of the literature.
Mogahed EA, El-Hennawy A, El-Sayed R, El-Karaksy H. Mogahed EA, et al. Arab J Gastroenterol. 2015 Sep-Dec;16(3-4):142-4. doi: 10.1016/j.ajg.2015.06.006. Epub 2015 Oct 28. Arab J Gastroenterol. 2015. PMID: 26520282 Review.
Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. ...Liver biopsy revealed marked dif …
Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic diso …
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 quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larsson syndrome caused by fatty aldehyde dehydrogenase deficiency. Spastic paraplegia and muscle wasting are also seen in patients with m …
Spastic quadriplegia with ichthyosis and intellectual disability are the presenting signs of the elongase 4 deficiency and the Sjogren-Larss …
16 results