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Items: 1 to 20 of 23

1.

Inherited ichthyosis: Syndromic forms.

Yoneda K.

J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. Review.

PMID:
26945533
2.

Peroxisomes in brain development and function.

Berger J, Dorninger F, Forss-Petter S, Kunze M.

Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Review.

3.

Phytol in a pharma-medico-stance.

Islam MT, de Alencar MV, da Conceição Machado K, da Conceição Machado K, de Carvalho Melo-Cavalcante AA, de Sousa DP, de Freitas RM.

Chem Biol Interact. 2015 Oct 5;240:60-73. doi: 10.1016/j.cbi.2015.07.010. Review.

PMID:
26296761
4.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC.

Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Review.

PMID:
25646736
5.

Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.

Malheiro AR, da Silva TF, Brites P.

J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Review.

PMID:
25432520
6.

Chondrodysplasia Punctata 1, X-Linked.

Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Apr 22 [updated 2014 Nov 20].

7.

Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.

Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T.

Congenit Anom (Kyoto). 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. Review.

PMID:
24712475
8.

Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia.

Patterson SE, Dealy CN.

Dev Dyn. 2014 Jul;243(7):875-93. doi: 10.1002/dvdy.24131. Review.

9.

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

Cañueto J, Girós M, González-Sarmiento R.

Biochim Biophys Acta. 2014 Mar;1841(3):336-44. doi: 10.1016/j.bbalip.2013.09.002. Review.

PMID:
24036494
10.

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S, Soares N, He M, Steiner RD.

Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Review.

PMID:
23798009
11.

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.

Braverman NE, D'Agostino MD, Maclean GE.

Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113. Review.

PMID:
23798008
12.

Cholesterol metabolism deficiency.

Jira P.

Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Review.

PMID:
23622407
13.

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
14.

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Moser AB, Steinberg SJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2001 Nov 16 [updated 2012 Sep 13].

15.

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. Review.

16.

The importance of ether-phospholipids: a view from the perspective of mouse models.

da Silva TF, Sousa VF, Malheiro AR, Brites P.

Biochim Biophys Acta. 2012 Sep;1822(9):1501-8. doi: 10.1016/j.bbadis.2012.05.014. Review.

17.

Functions of plasmalogen lipids in health and disease.

Braverman NE, Moser AB.

Biochim Biophys Acta. 2012 Sep;1822(9):1442-52. doi: 10.1016/j.bbadis.2012.05.008. Review.

18.

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum.

Steinberg SJ, Raymond GV, Braverman NE, Moser AB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2003 Dec 12 [updated 2012 May 10].

19.

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

Poll-The BT, Gärtner J.

Biochim Biophys Acta. 2012 Sep;1822(9):1421-9. doi: 10.1016/j.bbadis.2012.03.011. Review.

20.

Peroxisomal leukoencephalopathy.

Poll-The BT, Engelen M.

Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Review.

PMID:
22422205
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