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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 2
2015 2
2016 1
2017 1
2018 2
2020 2
2021 1
2024 0

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17 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 Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. ...
Spectrum of metabolic myopathies.
Angelini C. Angelini C. Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2. Biochim Biophys Acta. 2015. PMID: 24997454 Free article. Review.
Other metabolic myopathies with massive lipid storage and weakness are carnitine deficiency, neutral lipid storage-myopathy (NLSD-M), besides RR-MADD. Enzyme replacement therapy is presented with critical consideration and for each of the lipid storage …
Other metabolic myopathies with massive lipid storage and weakness are carnitine deficiency, neutral lipid storage-m …
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.
Metabolic and drug-induced muscle disorders.
Scarlato G, Comi GP. Scarlato G, et al. Curr Opin Neurol. 2002 Oct;15(5):533-8. doi: 10.1097/00019052-200210000-00003. Curr Opin Neurol. 2002. PMID: 12351996 Review.
RECENT FINDINGS: New inherited defects are still being discovered, such as the beta-enolase deficiency in glycogenosis type XIII and mutations in the gene encoding an esterase/lipase/thioesterase protein in Chanarin-Dorfman syndrome, a multisystem triglycerid …
RECENT FINDINGS: New inherited defects are still being discovered, such as the beta-enolase deficiency in glycogenosis type XIII and mutatio …
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.
17 results