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Rhizomelic Chondrodysplasia Punctata Type 1.
2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2001 Nov 16 [updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301447
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Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry.
Blevins MS, Shields SWJ, Cui W, Fallatah W, Moser AB, Braverman NE, Brodbelt JS.
Blevins MS, et al. Among authors: fallatah w.
Anal Chem. 2022 Sep 20;94(37):12621-12629. doi: 10.1021/acs.analchem.2c01274. Epub 2022 Sep 7.
Anal Chem. 2022.
PMID: 36070546
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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Fallatah W, Schouten M, Yergeau C, Di Pietro E, Engelen M, Waterham HR, Poll-The BT, Braverman N.
Fallatah W, et al.
J Inherit Metab Dis. 2021 Jul;44(4):1021-1038. doi: 10.1002/jimd.12349. Epub 2021 Jan 26.
J Inherit Metab Dis. 2021.
PMID: 33337545
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Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Dorninger F, Kiss A, Rothauer P, Stiglbauer-Tscholakoff A, Kummer S, Fallatah W, Perera-Gonzalez M, Hamza O, König T, Bober MB, Cavallé-Garrido T, Braverman NE, Forss-Petter S, Pifl C, Bauer J, Bittner RE, Helbich TH, Podesser BK, Todt H, Berger J.
Dorninger F, et al. Among authors: fallatah w.
Int J Mol Sci. 2023 Jan 18;24(3):1884. doi: 10.3390/ijms24031884.
Int J Mol Sci. 2023.
PMID: 36768204
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Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata.
Fallatah W, Smith T, Cui W, Jayasinghe D, Di Pietro E, Ritchie SA, Braverman N.
Fallatah W, et al.
Dis Model Mech. 2020 Jan 24;13(1):dmm042499. doi: 10.1242/dmm.042499.
Dis Model Mech. 2020.
PMID: 31862688
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A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.
Fallatah W, Cui W, Di Pietro E, Carter GT, Pounder B, Dorninger F, Pifl C, Moser AB, Berger J, Braverman NE.
Fallatah W, et al.
Front Cell Dev Biol. 2022 Jul 11;10:886316. doi: 10.3389/fcell.2022.886316. eCollection 2022.
Front Cell Dev Biol. 2022.
PMID: 35898397
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