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Quoted phrase not found in phrase index: "Triglyceride storage disease with ichthyosis"
Page 1
Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13. J Neurol. 2017. PMID: 28503705 Free PMC article.
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 …
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group. Pennisi EM, et al. Orphanet J Rare Dis. 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. Orphanet J Rare Dis. 2017. PMID: 28499397 Free PMC article.
Causes of secondary non-alcoholic fatty liver disease in non-obese children below 10 years.
Mogahed EA, Sayed AA, Khalifa SE, El-Hennawy A, El-Raziky MS. Mogahed EA, et al. Eur J Pediatr. 2020 May;179(5):719-726. doi: 10.1007/s00431-019-03551-0. Epub 2020 Jan 2. Eur J Pediatr. 2020. PMID: 31897838
Glycogen storage disease (GSD) was the most common diagnosis (33.3%) followed by hepatitis C virus (HCV) (10.6%) and Chanarin-Dorfman syndrome (CDS) (9.1%). The cause of steatosis could not be identified in 28.8% of cases. ...Secondary causes of NAFLD should …
Glycogen storage disease (GSD) was the most common diagnosis (33.3%) followed by hepatitis C virus (HCV) (10.6%) and Chanarin-Dorf …
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, Salvayre R. Fischer J, et al. Nat Genet. 2007 Jan;39(1):28-30. doi: 10.1038/ng1951. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187067
The block in triglyceride degradation was mimicked by short interfering RNA directed against ATGL. NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to …
The block in triglyceride degradation was mimicked by short interfering RNA directed against ATGL. NLSDM is distinct from Chanarin- …
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.
Louhichi N, Bahloul E, Marrakchi S, Othman HB, Triki C, Aloulou K, Trabelsi L, Mahfouth N, Ayadi-Mnif Z, Keskes L, Fakhfakh F, Turki H. Louhichi N, et al. Orphanet J Rare Dis. 2019 May 22;14(1):112. doi: 10.1186/s13023-019-1095-4. Orphanet J Rare Dis. 2019. PMID: 31118107 Free PMC article.
BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. ...
BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol i …
12 results