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1.
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36768204
2.
Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry.
Anal Chem
; 94(37): 12621-12629, 2022 09 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36070546
3.
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
J Inherit Metab Dis
; 44(4): 1021-1038, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33337545
4.
A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.
Front Cell Dev Biol
; 10: 886316, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35898397
5.
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata.
Dis Model Mech
; 13(1)2020 01 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-31862688
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