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Results: 1 to 20 of 77

1.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schütz M, Marquardt T, Smeitink JA, Waterham HR, Wanders RJ.

Hum Mutat. 2004 Aug;24(2):130-9.

PMID:
15241794
[PubMed - indexed for MEDLINE]
2.

Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders.

Osumi T, Imamura A, Tsukamoto T, Fujiwara C, Hashiguchi N, Shimozawa N, Suzuki Y, Kondo N.

Cell Biochem Biophys. 2000;32 Spring:165-70. Review.

PMID:
11330043
[PubMed - indexed for MEDLINE]
3.

Genotype-phenotype correlations in disorders of peroxisome biogenesis.

Moser HW.

Mol Genet Metab. 1999 Oct;68(2):316-27. Review.

PMID:
10527683
[PubMed - indexed for MEDLINE]
4.

Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.

Wanders RJ, Waterham HR.

Clin Genet. 2005 Feb;67(2):107-33. Review.

PMID:
15679822
[PubMed - indexed for MEDLINE]
5.

Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders.

Brosius U, Gärtner J.

Cell Mol Life Sci. 2002 Jun;59(6):1058-69. Review.

PMID:
12169017
[PubMed - indexed for MEDLINE]
6.

Peroxisome biogenesis disorders.

Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW.

Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. Epub 2006 Sep 14. Review.

PMID:
17055079
[PubMed - indexed for MEDLINE]
Free Article
7.

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.

Suzuki Y, Shimozawa N, Imamura A, Fukuda S, Zhang Z, Orii T, Kondo N.

J Inherit Metab Dis. 2001 Apr;24(2):151-65. Review.

PMID:
11405337
[PubMed - indexed for MEDLINE]
8.

Molecular and clinical aspects of peroxisomal diseases.

Shimozawa N.

J Inherit Metab Dis. 2007 Apr;30(2):193-7. Epub 2007 Mar 8. Review.

PMID:
17347916
[PubMed - indexed for MEDLINE]
9.

Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.

Fujiki Y, Okumoto K, Otera H, Tamura S.

Cell Biochem Biophys. 2000;32 Spring:155-64. Review.

PMID:
11330042
[PubMed - indexed for MEDLINE]
10.

Peroxisome biogenesis disorders: genetics and cell biology.

Gould SJ, Valle D.

Trends Genet. 2000 Aug;16(8):340-5. Review.

PMID:
10904262
[PubMed - indexed for MEDLINE]
11.

Genetics and molecular basis of human peroxisome biogenesis disorders.

Waterham HR, Ebberink MS.

Biochim Biophys Acta. 2012 Sep;1822(9):1430-41. doi: 10.1016/j.bbadis.2012.04.006. Epub 2012 Apr 25. Review.

PMID:
22871920
[PubMed - indexed for MEDLINE]
Free Article
12.

Peroxisomal disorders.

Raymond GV.

Curr Opin Pediatr. 1999 Dec;11(6):572-6. Review.

PMID:
10590918
[PubMed - indexed for MEDLINE]
13.

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Crane DI, Maxwell MA, Paton BC.

Hum Mutat. 2005 Sep;26(3):167-75. Review.

PMID:
16086329
[PubMed - indexed for MEDLINE]
14.

Molecular and neurologic findings of peroxisome biogenesis disorders.

Shimozawa N, Nagase T, Takemoto Y, Funato M, Kondo N, Suzuki Y.

J Child Neurol. 2005 Apr;20(4):326-9. Review.

PMID:
15921234
[PubMed - indexed for MEDLINE]
15.

Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import.

Nagotu S, Kalel VC, Erdmann R, Platta HW.

Biochim Biophys Acta. 2012 Sep;1822(9):1326-36. doi: 10.1016/j.bbadis.2012.05.010. Epub 2012 May 19. Review.

PMID:
22617146
[PubMed - indexed for MEDLINE]
Free Article
16.

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

Dursun A, Gucer S, Ebberink MS, Yigit S, Wanders RJ, Waterham HR.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S345-8. doi: 10.1007/s10545-009-9010-0. Epub 2009 Dec 23. Review.

PMID:
20033294
[PubMed - indexed for MEDLINE]
17.

Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.

Powers JM, Moser HW.

Brain Pathol. 1998 Jan;8(1):101-20. Review.

PMID:
9458170
[PubMed - indexed for MEDLINE]
18.

Molecular genetics of peroxisomal disorders.

Moser HW.

Front Biosci. 2000 Mar 1;5:D298-306. Review.

PMID:
10704429
[PubMed - indexed for MEDLINE]
19.

Human peroxisomal disorders.

Depreter M, Espeel M, Roels F.

Microsc Res Tech. 2003 Jun 1;61(2):203-23. Review.

PMID:
12740827
[PubMed - indexed for MEDLINE]
20.

Update on genetic and molecular investigations of diseases with general impairment of peroxisomal functions.

Bioukar EB, Deschatrette J.

Biochimie. 1993;75(3-4):303-8. Review.

PMID:
8507691
[PubMed - indexed for MEDLINE]

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