Cordisco A, Pelo E, Di Tommaso M, Biagiotti R
Mol Genet Genomic Med. 2021; 9(8):e1733.
PMID: 34110102
PMC: 8404227.
DOI: 10.1002/mgg3.1733.
Alekos N, Moorer M, Riddle R
Front Endocrinol (Lausanne). 2020; 11:578194.
PMID: 33071983
PMC: 7538543.
DOI: 10.3389/fendo.2020.578194.
Cho D, Kim Y, Jo D, Choe S, Jo E
Mol Cells. 2018; 41(1):55-64.
PMID: 29370694
PMC: 5792714.
DOI: 10.14348/molcells.2018.2245.
Argyriou C, DAgostino M, Braverman N
Transl Sci Rare Dis. 2017; 1(2):111-144.
PMID: 29152457
PMC: 5678237.
DOI: 10.3233/TRD-160003.
Dorninger F, Forss-Petter S, Berger J
FEBS Lett. 2017; 591(18):2761-2788.
PMID: 28796901
PMC: 5856336.
DOI: 10.1002/1873-3468.12788.
Peroxisomes in Different Skeletal Cell Types during Intramembranous and Endochondral Ossification and Their Regulation during Osteoblast Differentiation by Distinct Peroxisome Proliferator-Activated Receptors.
Qian G, Fan W, Ahlemeyer B, Karnati S, Baumgart-Vogt E
PLoS One. 2015; 10(12):e0143439.
PMID: 26630504
PMC: 4668026.
DOI: 10.1371/journal.pone.0143439.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R, Tawamie H, Smith C, Uebe S, Innes A, Al Hallak B
Am J Hum Genet. 2014; 95(5):602-10.
PMID: 25439727
PMC: 4225589.
DOI: 10.1016/j.ajhg.2014.10.003.
The neurology of rhizomelic chondrodysplasia punctata.
Bams-Mengerink A, Koelman J, Waterham H, Barth P, Poll-The B
Orphanet J Rare Dis. 2013; 8:174.
PMID: 24172221
PMC: 4228450.
DOI: 10.1186/1750-1172-8-174.
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U
Am J Hum Genet. 2006; 78(6):1046-52.
PMID: 16685654
PMC: 1474093.
DOI: 10.1086/503921.
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley A, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R
Am J Hum Genet. 2002; 70(3):612-24.
PMID: 11781871
PMC: 384941.
DOI: 10.1086/338998.
Plasmalogens, phospholipase A2, and docosahexaenoic acid turnover in brain tissue.
Farooqui A, Horrocks L
J Mol Neurosci. 2001; 16(2-3):263-72; discussion 279-84.
PMID: 11478381
DOI: 10.1385/jmn:16:2-3:263.
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.
Purdue P, Skoneczny M, Yang X, Zhang J, Lazarow P
Neurochem Res. 1999; 24(4):581-6.
PMID: 10227689
DOI: 10.1023/a:1023957110171.
Peroxisomal disorders: clinical, biochemical, and molecular aspects.
Wanders R
Neurochem Res. 1999; 24(4):565-80.
PMID: 10227688
DOI: 10.1023/a:1022592014988.
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
Wanders R, Ofman R, Romeijn G, Schutgens R, Mooijer P, Dekker C
J Inherit Metab Dis. 1995; 18 Suppl 1:90-100.
PMID: 9053559
DOI: 10.1007/BF00711432.
Clinical approach to inherited peroxisomal disorders.
Fournier B, Poll-The B, Saudubray J
J Inherit Metab Dis. 1995; 18 Suppl 1:1-18.
PMID: 9053544
DOI: 10.1007/BF00711425.
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
Hebestreit H, Wanders R, Schutgens R, Espeel M, Kerckaert I, Roels F
Eur J Pediatr. 1996; 155(12):1035-9.
PMID: 8956940
DOI: 10.1007/BF02532526.
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
Suzuki Y, Shimozawa N, Izai K, Uchida Y, Miura K, Akatsuka H
J Inherit Metab Dis. 1993; 16(5):868-71.
PMID: 8295403
DOI: 10.1007/BF00714280.
Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study.
Martinez M, Mougan I, Roig M, BALLABRIGA A
Lipids. 1994; 29(4):273-80.
PMID: 8177020
DOI: 10.1007/BF02536332.
Chondrodysplasia punctata with a mild clinical course.
Nuoffer J, Pfammatter J, Spahr A, Toplak H, Wanders R, Schutgens R
J Inherit Metab Dis. 1994; 17(1):60-6.
PMID: 7914249
DOI: 10.1007/BF00735395.
Differential protein import deficiencies in human peroxisome assembly disorders.
Motley A, Hettema E, Distel B, Tabak H
J Cell Biol. 1994; 125(4):755-67.
PMID: 7910611
PMC: 2120069.
DOI: 10.1083/jcb.125.4.755.
