Detalhe da pesquisa
1.
Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.
Immunity
; 47(1): 93-106.e7, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28723556
2.
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mol Genet Metab
; 139(3): 107604, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236006
3.
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Ophthalmology
; 130(12): 1313-1326, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541626
4.
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
J Inherit Metab Dis
; 46(6): 1159-1169, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747296
5.
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768204
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070546
7.
Peroxisome-Mediated Metabolism Is Required for Immune Response to Microbial Infection.
Immunity
; 48(4): 832-833, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29669255
8.
Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
J Cell Biochem
; 122(10): 1337-1349, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056752
9.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220678
10.
Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids.
J Cell Biochem
; 120(3): 3243-3258, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362618
11.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
J Inherit Metab Dis
; 42(1): 107-116, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740739
12.
Growth charts for individuals with rhizomelic chondrodysplasia punctata.
Am J Med Genet A
; 173(1): 108-113, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616591
13.
Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.
Biochim Biophys Acta
; 1851(2): 117-28, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25463479
14.
Low bone mineral density is a common feature of Zellweger spectrum disorders.
Mol Genet Metab
; 117(1): 33-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26643206
15.
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Mol Genet Metab
; 117(3): 313-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26750748
16.
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
J Inherit Metab Dis
; 38(5): 839-46, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25567501
17.
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Genet Med
; 16(2): 188-200, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385074
18.
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.
Mol Genet Metab
; 111(4): 522-532, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503136
19.
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model.
Cell Rep
; 43(2): 113744, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329874
20.
Functions of plasmalogen lipids in health and disease.
Biochim Biophys Acta
; 1822(9): 1442-52, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22627108