Detalhe da pesquisa
1.
Four-dimensional Lipidomics Profiling in X-linked Adrenoleukodystrophy using Trapped Ion Mobility Mass Spectrometry.
J Lipid Res
; : 100567, 2024 May 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38795862
2.
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.
J Inherit Metab Dis
; 2024 May 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38795020
3.
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain
; 146(12): 5198-5208, 2023 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37647852
4.
VUS: Variant of uncertain significance or very unclear situation?
Mol Genet Metab
; 140(1-2): 107678, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37574344
5.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
J Inherit Metab Dis
; 46(1): 116-128, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36256460
6.
Structured Multidisciplinary Follow-Up After Pediatric Intensive Care: A Model for Continuous Data-Driven Health Care Innovation.
Pediatr Crit Care Med
; 24(6): 484-498, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36807306
7.
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
J Inherit Metab Dis
; 45(5): 981-995, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35758105
8.
Structural brain abnormalities in children and young adults with severe chronic kidney disease.
Pediatr Nephrol
; 37(5): 1125-1136, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34800137
9.
Endovascular Treatment for Acute Ischemic Stroke in Children: Experience From the MR CLEAN Registry.
Stroke
; 52(3): 781-788, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33617341
10.
Evolution of adrenoleukodystrophy model systems.
J Inherit Metab Dis
; 44(3): 544-553, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33373044
11.
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
J Inherit Metab Dis
; 44(4): 1021-1038, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33337545
12.
Imaging in X-Linked Adrenoleukodystrophy.
Neuropediatrics
; 52(4): 252-260, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34192790
13.
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Mol Genet Metab
; 131(4): 370-379, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33199205
14.
Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.
J Inherit Metab Dis
; 43(4): 852-860, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32077106
15.
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.
Brain
; 142(2): 334-343, 2019 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30535170
16.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31637422
17.
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder.
J Inherit Metab Dis
; 42(5): 955-965, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31150129
18.
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
J Inherit Metab Dis
; 42(2): 303-312, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30793331
19.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29097605
20.
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.
J Inherit Metab Dis
; 41(2): 249-255, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29139025