213 related articles for article (PubMed ID: 29419819)
1. A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Wangler MF; Hubert L; Donti TR; Ventura MJ; Miller MJ; Braverman N; Gawron K; Bose M; Moser AB; Jones RO; Rizzo WB; Sutton VR; Sun Q; Kennedy AD; Elsea SH
Genet Med; 2018 Oct; 20(10):1274-1283. PubMed ID: 29419819
[TBL] [Abstract][Full Text] [Related]
2. Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Enns GM; Ammous Z; Himes RW; Nogueira J; Palle S; Sullivan M; Ramirez C
Mol Genet Metab; 2021 Nov; 134(3):217-222. PubMed ID: 34625341
[TBL] [Abstract][Full Text] [Related]
3. A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Lee J; Yergeau C; Kawai K; Braverman N; Géléoc GSG
Ear Hear; 2022; 43(2):582-591. PubMed ID: 34534157
[TBL] [Abstract][Full Text] [Related]
4. Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
Klouwer FCC; Ferdinandusse S; van Lenthe H; Kulik W; Wanders RJA; Poll-The BT; Waterham HR; Vaz FM
J Inherit Metab Dis; 2017 Nov; 40(6):875-881. PubMed ID: 28677031
[TBL] [Abstract][Full Text] [Related]
5. Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.
Demaret T; Roumain M; Ambroise J; Evraerts J; Ravau J; Bouzin C; Bearzatto B; Gala JL; Stepman H; Marie S; Vincent MF; Muccioli GG; Najimi M; Sokal EM
Biochim Biophys Acta Mol Basis Dis; 2020 Nov; 1866(11):165900. PubMed ID: 32693164
[TBL] [Abstract][Full Text] [Related]
6. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Braverman NE; Raymond GV; Rizzo WB; Moser AB; Wilkinson ME; Stone EM; Steinberg SJ; Wangler MF; Rush ET; Hacia JG; Bose M
Mol Genet Metab; 2016 Mar; 117(3):313-21. PubMed ID: 26750748
[TBL] [Abstract][Full Text] [Related]
7. Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.
Wang XM; Yik WY; Zhang P; Lu W; Huang N; Kim BR; Shibata D; Zitting M; Chow RH; Moser AB; Steinberg SJ; Hacia JG
Stem Cell Res Ther; 2015 Aug; 6():158. PubMed ID: 26319495
[TBL] [Abstract][Full Text] [Related]
8. Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.
Zaabi NA; Kendi A; Al-Jasmi F; Takashima S; Shimozawa N; Al-Dirbashi OY
Brain Dev; 2019 Jan; 41(1):57-65. PubMed ID: 30078639
[TBL] [Abstract][Full Text] [Related]
9. Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
Cheillan D
Adv Exp Med Biol; 2020; 1299():71-80. PubMed ID: 33417208
[TBL] [Abstract][Full Text] [Related]
10. Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorders.
Wangler MF; Chao YH; Roth M; Welti R; McNew JA
bioRxiv; 2024 Apr; ():. PubMed ID: 38746221
[TBL] [Abstract][Full Text] [Related]
11. Low bone mineral density is a common feature of Zellweger spectrum disorders.
Rush ET; Goodwin JL; Braverman NE; Rizzo WB
Mol Genet Metab; 2016 Jan; 117(1):33-7. PubMed ID: 26643206
[TBL] [Abstract][Full Text] [Related]
12. Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities.
Takashima S; Fujita H; Toyoshi K; Ohba A; Hirata Y; Shimozawa N; Oh-Hashi K
Mol Genet Metab; 2022; 137(1-2):68-80. PubMed ID: 35932552
[TBL] [Abstract][Full Text] [Related]
13. The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
Hiebler S; Masuda T; Hacia JG; Moser AB; Faust PL; Liu A; Chowdhury N; Huang N; Lauer A; Bennett J; Watkins PA; Zack DJ; Braverman NE; Raymond GV; Steinberg SJ
Mol Genet Metab; 2014 Apr; 111(4):522-532. PubMed ID: 24503136
[TBL] [Abstract][Full Text] [Related]
14. Development and validation of a severity scoring system for Zellweger spectrum disorders.
Klouwer FCC; Meester-Delver A; Vaz FM; Waterham HR; Hennekam RCM; Poll-The BT
Clin Genet; 2018 Mar; 93(3):613-621. PubMed ID: 28857144
[TBL] [Abstract][Full Text] [Related]
15. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY; Steinberg SJ; Moser AB; Moser HW; Hacia JG
Hum Mutat; 2009 Mar; 30(3):E467-80. PubMed ID: 19105186
[TBL] [Abstract][Full Text] [Related]
16. The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.
Nuebel E; Morgan JT; Fogarty S; Winter JM; Lettlova S; Berg JA; Chen YC; Kidwell CU; Maschek JA; Clowers KJ; Argyriou C; Chen L; Wittig I; Cox JE; Roh-Johnson M; Braverman N; Bonkowsky J; Gygi SP; Rutter J
EMBO Rep; 2021 Oct; 22(10):e51991. PubMed ID: 34351705
[TBL] [Abstract][Full Text] [Related]
17. Peroxisome biogenesis disorders.
Steinberg SJ; Dodt G; Raymond GV; Braverman NE; Moser AB; Moser HW
Biochim Biophys Acta; 2006 Dec; 1763(12):1733-48. PubMed ID: 17055079
[TBL] [Abstract][Full Text] [Related]
18. Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.
Chen YJ; Wang MW; Dong EL; Lin XH; Wang N; Zhang ZQ; Lin X; Chen WJ
Parkinsonism Relat Disord; 2019 Aug; 65():256-260. PubMed ID: 31227335
[TBL] [Abstract][Full Text] [Related]
19. Mitochondria as emergency landing for abandoned peroxins.
Vögtle FN; Meisinger C
EMBO Rep; 2021 Oct; 22(10):e53790. PubMed ID: 34414648
[TBL] [Abstract][Full Text] [Related]
20. Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.
Lipiński P; Stawiński P; Rydzanicz M; Wypchło M; Płoski R; Stradomska TJ; Jurkiewicz E; Ferdinandusse S; Wanders RJA; Vaz FM; Tylki-Szymańska A
J Appl Genet; 2020 Feb; 61(1):87-91. PubMed ID: 31628608
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
