PubMed for id: 341734

Year	Number of Results
1988	1
1990	1
1994	1
1995	1
1997	2
1998	3
2000	1
2001	1
2003	1
2010	1
2011	2
2012	3
2014	3
2015	3
2016	2
2017	2
2018	1
2021	3
2023	1

1

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).

Sztriha L, Al-Gazali LI, Wanders RJ, Ofman R, Nork M, Lestringant GG. Sztriha L, et al. Dev Med Child Neurol. 2000 Jul;42(7):492-5. doi: 10.1017/s0012162200000918. Dev Med Child Neurol. 2000. PMID: 10972423 Free article.

2

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.

Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ. Ofman R, et al. Hum Mol Genet. 1998 May;7(5):847-53. doi: 10.1093/hmg/7.5.847. Hum Mol Genet. 1998. PMID: 9536089

3

Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.

Sztriha LS, Nork MP, Abdulrazzaq YM, al-Gazali LI, Bakalinova DB. Sztriha LS, et al. Pediatr Neurol. 1997 Apr;16(3):232-6. doi: 10.1016/s0887-8994(97)00014-3. Pediatr Neurol. 1997. PMID: 9165515

4

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

Clayton PT, Eckhardt S, Wilson J, Hall CM, Yousuf Y, Wanders RJ, Schutgens RB. Clayton PT, et al. J Inherit Metab Dis. 1994;17(5):533-40. doi: 10.1007/BF00711587. J Inherit Metab Dis. 1994. PMID: 7530787

5

Impaired neurotransmission in ether lipid-deficient nerve terminals.

Brodde A, Teigler A, Brugger B, Lehmann WD, Wieland F, Berger J, Just WW. Brodde A, et al. Hum Mol Genet. 2012 Jun 15;21(12):2713-24. doi: 10.1093/hmg/dds097. Epub 2012 Mar 8. Hum Mol Genet. 2012. PMID: 22403185 Free PMC article.

6

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973

7

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD. McLaren CE, et al. Hepatology. 2015 Aug;62(2):429-39. doi: 10.1002/hep.27711. Epub 2015 Mar 18. Hepatology. 2015. PMID: 25605615 Free PMC article.

8

In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor.

Wood PL, Khan MA, Smith T, Ehrmantraut G, Jin W, Cui W, Braverman NE, Goodenowe DB. Wood PL, et al. Lipids Health Dis. 2011 Oct 18;10:182. doi: 10.1186/1476-511X-10-182. Lipids Health Dis. 2011. PMID: 22008564 Free PMC article.

9

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N. Itzkovitz B, et al. Hum Mutat. 2012 Jan;33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21990100

10

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N. Nimmo G, et al. Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489. Am J Med Genet A. 2010. PMID: 20583171

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