Detalhe da pesquisa
1.
Versatile and robust genome editing with Streptococcus thermophilus CRISPR1-Cas9.
Genome Res
; 30(1): 107-117, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31900288
2.
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors.
Mol Genet Metab
; 138(1): 106966, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528988
3.
Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers.
Mol Genet Metab
; 137(3): 257-264, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228350
4.
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course.
Mol Genet Metab
; 135(1): 47-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896004
5.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
J Inherit Metab Dis
; 42(1): 107-116, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740739
6.
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Genet Med
; 20(9): 942-949, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388948
7.
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
J Med Genet
; 54(4): 241-247, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27876694
8.
Analysis of Globotriaosylceramide (Gb3) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry.
Curr Protoc
; 4(6): e1087, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38896100
9.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am J Hum Genet
; 87(6): 905-14, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129721
10.
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 106(4): 478-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22784480
11.
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
J Inherit Metab Dis
; 35(6): 1031-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403017
12.
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.
J Pathol
; 225(1): 12-8, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21792934
13.
Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.
Can J Neurol Sci
; 39(4): 520-4, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22728862
14.
Variability of phenotype in two sisters with pyridoxine dependent epilepsy.
Can J Neurol Sci
; 39(4): 516-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22728861
15.
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Am J Med Genet A
; 155A(4): 840-4, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412973
16.
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
Cephalalgia
; 31(15): 1580-6, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22013141
17.
Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.
Dev Med Child Neurol
; 53(6): 565-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21518340
18.
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
J Clin Med
; 10(17)2021 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34501319
19.
Clinical utility of methionine restriction in adenosine kinase deficiency.
JIMD Rep
; 61(1): 52-59, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485018
20.
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Ann Neurol
; 65(5): 550-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19142996