Detalhe da pesquisa
1.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31597037
2.
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Metab Brain Dis
; 37(5): 1317-1335, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348993
3.
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
J Genet Couns
; 31(1): 218-229, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34309124
4.
Transient developmental delays in infants with Duarte-2 variant galactosemia.
Mol Genet Metab
; 134(1-2): 132-138, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34391645
5.
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
J Inherit Metab Dis
; 43(6): 1205-1218, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592186
6.
Revising the Psychiatric Phenotype of Homocystinuria.
Genet Med
; 21(8): 1827-1831, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643218
7.
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genet Med
; 21(3): 622-630, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209271
8.
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Mol Genet Metab
; 126(4): 368-376, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718057
9.
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
J Inherit Metab Dis
; 42(6): 1176-1191, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268178
10.
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
J Inherit Metab Dis
; 42(2): 243-253, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30671983
11.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
J Inherit Metab Dis
; 41(4): 657-667, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423830
12.
The BabySeq project: implementing genomic sequencing in newborns.
BMC Pediatr
; 18(1): 225, 2018 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986673
13.
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Genet Med
; 19(12)2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771246
14.
Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.
Mol Genet Metab
; 121(1): 9-15, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28408159
15.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
J Inherit Metab Dis
; 40(2): 209-218, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28054209
16.
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
J Inherit Metab Dis
; 40(2): 171-176, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858262
17.
Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.
Mol Genet Metab
; 118(2): 65-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132782
18.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
J Inherit Metab Dis
; 39(4): 573-84, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27215558
19.
Parents are interested in newborn genomic testing during the early postpartum period.
Genet Med
; 17(6): 501-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25474344
20.
Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States.
Nutrition
; 116: 112201, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804556