Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.
Mol Genet Metab
; 136(3): 199-218, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660124
3.
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
J Inherit Metab Dis
; 45(4): 819-831, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403730
4.
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
J Inherit Metab Dis
; 45(6): 1094-1105, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053831
5.
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Genet Med
; 22(10): 1606-1612, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523054
6.
The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
J Inherit Metab Dis
; 43(3): 507-517, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845337
7.
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
8.
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
J Inherit Metab Dis
; 41(4): 641-646, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28894950
9.
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.
J Lipid Res
; 58(5): 1002-1007, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28314860
10.
Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.
Dig Dis
; 35(3): 259-260, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249272
11.
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
Eur J Pediatr
; 175(1): 143-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26156051
12.
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
13.
Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 36(5): 831-40, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22976767
14.
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
Orphanet J Rare Dis
; 18(1): 108, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158969
15.
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Biomolecules
; 13(9)2023 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37759814
16.
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Clin Chim Acta
; 539: 170-174, 2023 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36529270
17.
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
BioDrugs
; 37(5): 685-698, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326923
18.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Int J Neonatal Screen
; 9(4)2023 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873847
19.
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
Expert Rev Neurother
; 21(11): 1275-1282, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33538188
20.
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
JIMD Rep
; 61(1): 12-18, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485012