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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
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2016 1
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2021 1
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Page 1
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. ...
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.
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 …
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 …
16 results