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Peroxisome Biogenesis Disorder, Complementation Group 11(CG11)

MedGen UID:
356213
Concept ID:
C1866351
Disease or Syndrome
Synonyms: CG11; PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 11
 
OMIM®: 614879

Recent clinical studies

Etiology

Okumoto K, Fujiki Y
Methods Mol Biol 2017;1595:319-327. doi: 10.1007/978-1-4939-6937-1_29. PMID: 28409474
Shimozawa N
J Inherit Metab Dis 2007 Apr;30(2):193-7. Epub 2007 Mar 8 doi: 10.1007/s10545-007-0516-z. PMID: 17347916
Gootjes J, Schmohl F, Waterham HR, Wanders RJ
Eur J Hum Genet 2004 Feb;12(2):115-20. doi: 10.1038/sj.ejhg.5201090. PMID: 14571262
Gould SJ, Valle D
Trends Genet 2000 Aug;16(8):340-5. doi: 10.1016/s0168-9525(00)02056-4. PMID: 10904262
Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB
Neurochem Res 1999 Apr;24(4):581-6. doi: 10.1023/a:1023957110171. PMID: 10227689

Diagnosis

Shimozawa N
J Inherit Metab Dis 2007 Apr;30(2):193-7. Epub 2007 Mar 8 doi: 10.1007/s10545-007-0516-z. PMID: 17347916
Shimozawa N, Nagase T, Takemoto Y, Ohura T, Suzuki Y, Kondo N
Am J Med Genet A 2003 Jul 1;120A(1):40-3. doi: 10.1002/ajmg.a.20030. PMID: 12794690

Prognosis

Gootjes J, Schmohl F, Waterham HR, Wanders RJ
Eur J Hum Genet 2004 Feb;12(2):115-20. doi: 10.1038/sj.ejhg.5201090. PMID: 14571262
Björkman J, Stetten G, Moore CS, Gould SJ, Crane DI
Genomics 1998 Dec 15;54(3):521-8. doi: 10.1006/geno.1998.5520. PMID: 9878256

Clinical prediction guides

Gootjes J, Schmohl F, Waterham HR, Wanders RJ
Eur J Hum Genet 2004 Feb;12(2):115-20. doi: 10.1038/sj.ejhg.5201090. PMID: 14571262
Purdue PE, Skoneczny M, Yang X, Zhang JW, Lazarow PB
Neurochem Res 1999 Apr;24(4):581-6. doi: 10.1023/a:1023957110171. PMID: 10227689
Björkman J, Stetten G, Moore CS, Gould SJ, Crane DI
Genomics 1998 Dec 15;54(3):521-8. doi: 10.1006/geno.1998.5520. PMID: 9878256

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