Detalhe da pesquisa
1.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med;
25(1): 125-134, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36350326
2.
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.
Mol Genet Metab;
139(1): 107582, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37087816
3.
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
J Inherit Metab Dis;
46(5): 956-971, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37340906
4.
Using PRPP-Assessment for measuring change in everyday activities by home-based videos: An exploratory case series study in children with multiple disabilities.
Aust Occup Ther J;
70(6): 644-660, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37365675
5.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis;
45(4): 804-818, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35383965
6.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis;
45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35279850
7.
A randomised placebo-controlled, double-blind phase II study to explore the safety, efficacy, and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease and motor symptoms ("KHENERGYC").
BMC Neurol;
22(1): 158, 2022 Apr 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35477351
8.
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Am J Hum Genet;
103(6): 1045-1052, 2018 12 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30526862
9.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med;
23(3): 581-585, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33087887
10.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
J Inherit Metab Dis;
42(5): 878-889, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31268564
11.
Quantification of gait in children with mitochondrial disease.
J Inherit Metab Dis;
41(4): 731-740, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29532198
12.
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Hum Mutat;
38(5): 524-531, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28101991
13.
International Paediatric Mitochondrial Disease Scale.
J Inherit Metab Dis;
39(5): 705-712, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27277220
14.
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.
J Inherit Metab Dis;
38(3): 477-82, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25303853
15.
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
J Magn Reson Imaging;
37(4): 974-80, 2013 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23055421
16.
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
Front Immunol;
13: 869031, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35603178
17.
Cognitive functioning and mental health in children with a primary mitochondrial disease.
Orphanet J Rare Dis;
17(1): 368, 2022 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36183138
18.
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Mol Genet Metab Rep;
31: 100873, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35782614
19.
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
Front Neurol;
12: 668640, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34163424
20.
Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
Eur J Med Genet;
61(12): 759-764, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30268909