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Items: 1 to 20 of 99

1.

Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases.

Shimozawa N.

Brain Dev. 2011 Oct;33(9):770-6. doi: 10.1016/j.braindev.2011.03.004. Epub 2011 Apr 5. Review.

PMID:
21470807
2.

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
3.

[Molecular analysis of peroxisomal disorders].

Shimozawa N.

No To Hattatsu. 1998 Mar;30(2):128-33. Japanese.

PMID:
9545777
4.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ.

Am J Hum Genet. 2002 Jun;70(6):1520-31. Epub 2002 Apr 29.

5.

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
6.

Peroxisome biogenesis disorders: genetics and cell biology.

Gould SJ, Valle D.

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

PMID:
10904262
7.

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.

Wei H, Kemp S, McGuinness MC, Moser AB, Smith KD.

Ann Neurol. 2000 Mar;47(3):286-96.

PMID:
10716247
8.

Peroxisomal disorders.

Aubourg P, Wanders R.

Handb Clin Neurol. 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. Review.

PMID:
23622381
9.

Human peroxisomal disorders.

Depreter M, Espeel M, Roels F.

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

PMID:
12740827
10.

Late onset white matter disease in peroxisome biogenesis disorder.

Barth PG, Gootjes J, Bode H, Vreken P, Majoie CB, Wanders RJ.

Neurology. 2001 Dec 11;57(11):1949-55.

PMID:
11769739
11.

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
12.

Peroxisomal disorders: clinical, biochemical, and molecular aspects.

Wanders RJ.

Neurochem Res. 1999 Apr;24(4):565-80. Review.

PMID:
10227688
13.

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

Matsumoto N, Tamura S, Moser A, Moser HW, Braverman N, Suzuki Y, Shimozawa N, Kondo N, Fujiki Y.

J Hum Genet. 2001;46(5):273-7.

PMID:
11355018
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
15.

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.

Mohamed S, El-Meleagy E, Nasr A, Ebberink MS, Wanders RJ, Waterham HR.

Am J Med Genet A. 2010 Sep;152A(9):2318-21. doi: 10.1002/ajmg.a.33560.

PMID:
20683989
16.

Peroxisomal disorders.

Raymond GV.

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

PMID:
10590918
17.

[Peroxisomal hereditary metabolic disorders].

Chandoga J, Petrovic R.

Cas Lek Cesk. 2001 Oct 25;140(21):651-7. Review. Slovak.

PMID:
11766453
18.

Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene.

Björkman J, Stetten G, Moore CS, Gould SJ, Crane DI.

Genomics. 1998 Dec 15;54(3):521-8.

PMID:
9878256
19.

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ.

Neurology. 2002 Dec 10;59(11):1746-9.

PMID:
12473763
20.

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

Warren DS, Wolfe BD, Gould SJ.

Hum Mutat. 2000;15(6):509-21.

PMID:
10862081

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