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Year Number of Results
1982 1
1985 1
1988 1
1989 1
1994 2
1998 2
1999 1
2001 1
2004 1
2006 1
2007 1
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2017 1
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21 results

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Page 1
Clinical classification and treatment of congenital and acquired lipodystrophy.
Chan JL, Oral EA. Chan JL, et al. Endocr Pract. 2010 Mar-Apr;16(2):310-23. doi: 10.4158/EP09154.RA. Endocr Pract. 2010. PMID: 20061300 Review.
OBJECTIVE: To review the initial clinical manifestations of congenital and acquired lipodystrophy syndromes, discuss novel classifications associated with genetic mutations, and assess currently available therapeutic options for patients with lipodystrophy. ...Patie …
OBJECTIVE: To review the initial clinical manifestations of congenital and acquired lipodystrophy syndromes, discuss novel classifica …
Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.
Zegallai HM, Hatch GM. Zegallai HM, et al. Mol Cell Biochem. 2021 Mar;476(3):1605-1629. doi: 10.1007/s11010-020-04021-0. Epub 2021 Jan 7. Mol Cell Biochem. 2021. PMID: 33415565 Review.
In addition, we discuss non-pharmacological management. Finally, we highlight the most recent promising therapeutic options for this rare mitochondrial disease including lipid replacement therapy, peroxisome proliferator-activated receptor agonists, tafazzin …
In addition, we discuss non-pharmacological management. Finally, we highlight the most recent promising therapeutic options for this …
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
BACKGROUND: Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. ...Studies on muscle tissues …
BACKGROUND: Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs …
Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.
Powers JM, Moser HW. Powers JM, et al. Brain Pathol. 1998 Jan;8(1):101-20. doi: 10.1111/j.1750-3639.1998.tb00139.x. Brain Pathol. 1998. PMID: 9458170 Free PMC article. Review.
Neurological dysfunction is a prominent feature of most peroxisomal disorders. Enormous progress in defining their gene defects has been achieved. ...The gene defect in adreno-leukodystrophy (ALD) / adrenomyeloneuropathy (AMN) involves an integral peroxisomal membra …
Neurological dysfunction is a prominent feature of most peroxisomal disorders. Enormous progress in defining their gene defects has b …
Mulibrey nanism: clinical features and diagnostic criteria.
Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M. Karlberg N, et al. J Med Genet. 2004 Feb;41(2):92-8. doi: 10.1136/jmg.2003.014118. J Med Genet. 2004. PMID: 14757854 Free PMC article.
Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous …
Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protei …
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
Suzuki Y, Shimozawa N, Kawabata I, Yajima S, Inoue K, Uchida Y, Izai K, Tomatsu S, Kondo N, Orii T. Suzuki Y, et al. Brain Dev. 1994 Jan-Feb;16(1):27-31. doi: 10.1016/0387-7604(94)90109-0. Brain Dev. 1994. PMID: 8059925
Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal beta-oxidation enzyme and rhizomelic type chondrodysplasia punctata were investigated by means of the lignoceric acid oxidation …
Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of pero …
Review. The role of peroxisome proliferator-activated receptor in the treatment of non-alcoholic fatty liver disease.
Sun X, Zhang Y, Xie M. Sun X, et al. Acta Pharm. 2017 Mar 1;67(1):1-13. doi: 10.1515/acph-2017-0007. Acta Pharm. 2017. PMID: 28231052 Free article. Review.
Non-alcoholic fatty liver disease (NAFLD) has been defined as a spectrum of histological abnormalities and is characterized by significant and excessive accumulation of triglycerides in the hepatocytes in patients without alcohol consumption or other diseases. Current stud …
Non-alcoholic fatty liver disease (NAFLD) has been defined as a spectrum of histological abnormalities and is characterized by signif …
Current pharmacological treatment of nonalcoholic fatty liver.
Portincasa P, Grattagliano I, Palmieri VO, Palasciano G. Portincasa P, et al. Curr Med Chem. 2006;13(24):2889-900. doi: 10.2174/092986706778521878. Curr Med Chem. 2006. PMID: 17073635 Review.
NAFLD/NASH are commonly detected because of elevated serum aminotransferase levels, ultrasonographic fatty liver and, at liver histology, steatosis, inflammation, and occasionally fibrosis that may progress to cirrhosis. ...Among them, thiazolidinediones are the most promi …
NAFLD/NASH are commonly detected because of elevated serum aminotransferase levels, ultrasonographic fatty liver and, at liver histology …
Inspiring Tactics with the Improvement of Mitophagy and Redox Balance for the Development of Innovative Treatment against Polycystic Kidney Disease.
Nakashima M, Suga N, Ikeda Y, Yoshikawa S, Matsuda S. Nakashima M, et al. Biomolecules. 2024 Feb 9;14(2):207. doi: 10.3390/biom14020207. Biomolecules. 2024. PMID: 38397444 Free PMC article. Review.
Mitophagy serves as important component of mitochondrial quality control by removing impaired/dysfunctional mitochondria from the cell to warrant redox homeostasis and sustain cell viability. Interestingly, treatment with the peroxisome proliferator-activated receptor-alph …
Mitophagy serves as important component of mitochondrial quality control by removing impaired/dysfunctional mitochondria from the cell to wa …
Pitfalls in the prenatal diagnosis of peroxisomal beta-oxidation defects by chorionic villus sampling.
Carey WF, Poulos A, Sharp P, Nelson PV, Robertson EF, Hughes JL, Gill A. Carey WF, et al. Prenat Diagn. 1994 Sep;14(9):813-9. doi: 10.1002/pd.1970140909. Prenat Diagn. 1994. PMID: 7845889
Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid beta-oxidation defect, and the other at risk for the X-linked fo …
Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived …
21 results