Detalhe da pesquisa
1.
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
2.
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Neurogenetics
; 23(2): 115-127, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106698
3.
Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
Am J Med Genet A
; 188(11): 3229-3235, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986576
4.
A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.
Ear Hear
; 43(2): 582-591, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534157
5.
Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.
PLoS Genet
; 15(9): e1008376, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487280
6.
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
J Inherit Metab Dis
; 44(4): 1021-1038, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337545
7.
Retraction: Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.
PLoS Genet
; 18(2): e1010048, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120116
8.
Alternate transcripts of the Drosophila "activator" E2F are necessary for maintenance of cell cycle exit during development.
Dev Biol
; 411(2): 195-206, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26859702
9.
An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.
J Particip Med
; 15: e46607, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37995128
10.
Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review.
Cells
; 11(12)2022 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741019