Detalhe da pesquisa
1.
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study.
BMC Pediatr
; 24(1): 81, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279082
2.
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Mov Disord
; 38(4): 646-653, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727539
3.
Gut Microbiome Composition in Dystonia Patients.
Int J Mol Sci
; 24(3)2023 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768705
4.
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
em Inglês
| MEDLINE | ID: mdl-35758105
5.
The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?
Int J Mol Sci
; 23(4)2022 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216315
6.
Treatment of ARS deficiencies with specific amino acids.
Genet Med
; 23(11): 2202-2207, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194004
7.
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
N Engl J Med
; 374(19): 1853-63, 2016 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120771
8.
Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.
Mov Disord
; 34(11): 1602-1613, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31584223
9.
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.
J Inherit Metab Dis
; 42(3): 451-458, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30815886
10.
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism.
Mov Disord
; 33(12): 1844-1856, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30485556
11.
Progressive myoclonus ataxia: Time for a new definition?
Mov Disord
; 33(8): 1281-1286, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30145808
12.
Treatable inherited rare movement disorders.
Mov Disord
; 33(1): 21-35, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28861905
13.
A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
J Inherit Metab Dis
; 41(6): 929-936, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29600495
14.
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.
Blood
; 125(13): 2164-72, 2015 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25624320
15.
Dystonia-deafness syndrome caused by a ß-actin gene mutation and response to deep brain stimulation.
Mov Disord
; 32(1): 162-165, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862284
16.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Mov Disord
; 32(4): 569-575, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28186668
17.
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.
Eur Radiol
; 27(3): 976-984, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271921
18.
Reliability of phenotypic early-onset ataxia assessment: a pilot study.
Dev Med Child Neurol
; 58(1): 70-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25995073
19.
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
Hum Mutat
; 36(7): 712-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25871441
20.
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Anal Chem
; 87(24): 12238-44, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26537538