Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1987 1
1988 3
1989 3
1990 1
1991 2
1992 2
1993 1
1994 1
1995 2
1996 1
1997 1
1998 6
1999 3
2000 5
2001 3
2002 1
2003 2
2005 1
2006 3
2007 1
2008 1
2009 1
2012 5
2013 2
2014 1
2015 4
2016 2
2017 1
2019 1
2020 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

62 results

Results by year

Filters applied: . Clear all
Page 1
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N. İli EG, et al. Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20. Am J Med Genet A. 2022. PMID: 35986576 Review.
Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defects. Patients with RCDP present with rhizomelic short stature, characteristic punctate epiphyseal calcifications, congenital cataracts, …
Rhizomelic chondrodysplasia punctata (RCDP) are a group of peroxisomal disorders caused by plasmalogen synthesis defect …
Peroxisomal leukoencephalopathy.
Poll-The BT, Engelen M. Poll-The BT, et al. Semin Neurol. 2012 Feb;32(1):42-50. doi: 10.1055/s-0032-1306385. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422205 Review.
Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia punctata spectrum, as well as some single enzyme defects of peroxisomal beta-oxidation. ...The leukoencephalopathy is progressive, with …
Peroxisomal leukoencephalopathies include diseases belonging to the Zellweger spectrum and the rhizomelic chondrodysplasia …
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome.
Malheiro AR, da Silva TF, Brites P. Malheiro AR, et al. J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Epub 2014 Nov 29. J Inherit Metab Dis. 2015. PMID: 25432520 Review.
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). The complex plasmal …
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbo …
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice.
Landino J, Jnah AJ, Newberry DM, Iben SC. Landino J, et al. J Perinat Neonatal Nurs. 2017 Oct/Dec;31(4):350-357. doi: 10.1097/JPN.0000000000000282. J Perinat Neonatal Nurs. 2017. PMID: 29068853 Review.
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. ...
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence …
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD, Chitty LS, Mansour S, Hall CM. Irving MD, et al. Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70. Clin Dysmorphol. 2008. PMID: 18978650 Review.
Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. ...
Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving per …
Peroxisomal disorders.
Aubourg P, Wanders R. Aubourg P, et al. Handb Clin Neurol. 2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. Handb Clin Neurol. 2013. PMID: 23622381 Review.
The PBD group comprises four different disorders that include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). ZS, NALD, and IRD are clearly distinct from RCDP and …
The PBD group comprises four different disorders that include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsu …
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. Islam MT, et al. Chem Biol Interact. 2015 Oct 5;240:60-73. doi: 10.1016/j.cbi.2015.07.010. Epub 2015 Aug 19. Chem Biol Interact. 2015. PMID: 26296761 Review.
In addition, it may be considered as an important biomarker for some diseases such as Refsum's Disease (RD), Sjogren Larsson syndrome (SLS), rhizomelic chondrodysplasia punctata (RZCP), chronic polyneuropathy (CP), Zellweger's disease hyperpipecolic academia …
In addition, it may be considered as an important biomarker for some diseases such as Refsum's Disease (RD), Sjogren Larsson syndrome (SLS), …
The type-2 peroxisomal targeting signal.
Kunze M. Kunze M. Biochim Biophys Acta Mol Cell Res. 2020 Feb;1867(2):118609. doi: 10.1016/j.bbamcr.2019.118609. Epub 2019 Nov 18. Biochim Biophys Acta Mol Cell Res. 2020. PMID: 31751594 Free article. Review.
Although only a few PTS2-carrying proteins are known in humans, subjects lacking a functional import mechanism for these proteins suffer from the severe inherited disease rhizomelic chondrodysplasia punctata....
Although only a few PTS2-carrying proteins are known in humans, subjects lacking a functional import mechanism for these proteins suffer fro …
Alkyl-dihydroxyacetonephosphate synthase.
de Vet EC, van den Bosch H. de Vet EC, et al. Cell Biochem Biophys. 2000;32 Spring:117-21. doi: 10.1385/cbb:32:1-3:117. Cell Biochem Biophys. 2000. PMID: 11330037 Review.
Levels of the enzyme protein were found to be strongly reduced in human fibroblasts derived from Zellweger syndrome and rhizomelic chondrodysplasia punctata patients. The molecular basis of an isolated alkyl-dihydroxyacetonephosphate synthase deficiency was r …
Levels of the enzyme protein were found to be strongly reduced in human fibroblasts derived from Zellweger syndrome and rhizomelic …
Peroxisomes in brain development and function.
Berger J, Dorninger F, Forss-Petter S, Kunze M. Berger J, et al. Biochim Biophys Acta. 2016 May;1863(5):934-55. doi: 10.1016/j.bbamcr.2015.12.005. Epub 2015 Dec 11. Biochim Biophys Acta. 2016. PMID: 26686055 Free PMC article. Review.
62 results