Detalhe da pesquisa
1.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481461
2.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367
3.
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Mol Genet Metab
; 133(3): 231-241, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33985889
4.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
5.
Developing interactions with industry in rare diseases: lessons learned and continuing challenges.
Genet Med
; 22(1): 219-226, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337884
6.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
J Inherit Metab Dis
; 43(5): 1024-1036, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32160317
7.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Hum Mol Genet
; 26(4): 702-716, 2017 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040730
8.
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Genet Med
; 21(3): 727-735, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976988
9.
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
J Inherit Metab Dis
; 42(3): 438-450, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737808
10.
Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
J Inherit Metab Dis
; 42(3): 565-574, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30663059
11.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis
; 42(2): 353-361, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043187
12.
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 20(9): 1098, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300369
13.
Is it time to start to consider treating the liver in glutaric aciduria type 1?
J Inherit Metab Dis
; 46(4): 539-540, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162343
14.
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Genet Med
; 19(1): 104-111, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362913
15.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis
; 40(3): 423-431, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205048
16.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011988
17.
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.
J Pediatr
; 170: 234-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26749113
18.
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
Ann Neurol
; 78(4): 606-18, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26179960
19.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
J Med Genet
; 52(8): 532-40, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25787132
20.
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Mol Genet Metab
; 116(1-2): 35-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026794