PMC Articles for MedGen (Select 869360) - PMC

Select item 107676031.

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review

Ling Su, Min‐Zhi Peng, Xiao‐Dan Chen, Shuang Wu, Li Liu

Mol Genet Genomic Med. 2024 Jan; 12(1): e2315. Published online 2023 Nov 14. doi: 10.1002/mgg3.2315

PMCID:: PMC10767603

Abstract Article PDF–1.2M

Select item 88474832.

Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism

Maaike Blankestijn, Vincent W. Bloks, Dicky Struik, Nicolette Huijkman, Niels Kloosterhuis, Justina C. Wolters, Ronald J. A. Wanders, Frédéric M. Vaz, Markus Islinger, Folkert Kuipers, Bart van de Sluis, Albert K. Groen, Henkjan J. Verkade, Johan W. Jonker

Sci Rep. 2022; 12: 2512. Published online 2022 Feb 15. doi: 10.1038/s41598-022-06479-y

PMCID:: PMC8847483

Abstract Article PDF–2.3M

Select item 77541413.

Fibroblast‐specific genome‐scale modelling predicts an imbalance in amino acid metabolism in Refsum disease

Agnieszka B. Wegrzyn, Katharina Herzog, Albert Gerding, Marcel Kwiatkowski, Justina C. Wolters, Amalia M. Dolga, Alida E. M. van Lint, Ronald J. A. Wanders, Hans R. Waterham, Barbara M. Bakker

FEBS J. 2020 Dec; 287(23): 5096–5113. Published online 2020 Mar 31. doi: 10.1111/febs.15292

PMCID:: PMC7754141

Abstract Article PDF–1.0M

Select item 44398954.

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Abdullah Çim, Salih Coşkun, Orhan Görükmez, Hatice Yüksel, Ünal Uluca, Erminia Di Pietro, François Plourde, Nancy Elise Braverman

J Clin Res Pediatr Endocrinol. 2015 Mar; 7(1): 69–72. Published online 2015 Mar 5. doi: 10.4274/jcrpe.1835

PMCID:: PMC4439895

Abstract Article PDF–137K

Select item 36545285.

LONG CHAIN FATTY ACID (LCFA) ABNORMALITIES IN HYPER IgD SYNDROME (HIDS) AND FAMILIAL MEDITERRANEAN FEVER (FMF): NEW INSIGHT INTO HERITABLE PERIODIC FEVERS

Anna Simon, Joost PH Drenth, Dietrich Matern, Eric S. Goetzman, Elizabeth J. Hager, K Michael Gibson

Mol Genet Metab. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Mol Genet Metab. 2013 Mar; 108(3): 166–171. Published online 2013 Jan 15. doi: 10.1016/j.ymgme.2013.01.004

PMCID:: PMC3654528

Abstract Article PDF–683K

Select item 29470926.

Rational diagnostic strategy for Zellweger syndrome spectrum patients

Cindy Krause, Hendrik Rosewich, Jutta Gärtner

Eur J Hum Genet. 2009 Jun; 17(6): 741–748. Published online 2009 Jan 14. doi: 10.1038/ejhg.2008.252

PMCID:: PMC2947092

Abstract Article PDF–220K

Select item 3792397.

Identification of PEX7 as the Second Gene Involved in Refsum Disease

Daan M. van den Brink, Pedro Brites, Janet Haasjes, Anthony S. Wierzbicki, John Mitchell, Michelle Lambert-Hamill, Jacqueline de Belleroche, Gerbert A. Jansen, Hans R. Waterham, Ronald J. A. Wanders

Am J Hum Genet. 2003 Feb; 72(2): 471–477. Published online 2003 Jan 9. doi: 10.1086/346093

PMCID:: PMC379239

Abstract Article PDF–211K

Select item 3037468.

Peroxisomal bifunctional enzyme deficiency.

P A Watkins, W W Chen, C J Harris, G Hoefler, S Hoefler, D C Blake, Jr, A Balfe, R I Kelley, A B Moser, M E Beard, et al.

J Clin Invest. 1989 Mar; 83(3): 771–777. doi: 10.1172/JCI113956

PMCID:: PMC303746

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