Detalhe da pesquisa
1.
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Am J Hum Genet
; 110(5): 863-879, 2023 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37146589
2.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Hum Mutat
; 43(2): 266-282, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34859529
3.
Progress and challenges in development of new therapies for urea cycle disorders.
Hum Mol Genet
; 28(R1): R42-R48, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31227828
4.
Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Mol Genet Metab
; 134(1-2): 37-42, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34176718
5.
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Mol Genet Metab
; 132(1): 19-26, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33388234
6.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Am J Med Genet A
; 185(2): 500-507, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33300687
7.
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Hum Mutat
; 39(4): 527-536, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29282796
8.
Do the data really support ordering fragile X testing as a first-tier test without clinical features?
Genet Med
; 19(12): 1317-1322, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28541279
9.
"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.
Mol Genet Metab
; 122(4): 153-155, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29102225
10.
Propionyl-CoA carboxylase - A review.
Mol Genet Metab
; 122(4): 145-152, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29033250
11.
Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.
Mol Genet Metab
; 120(3): 198-206, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28007335
12.
A pandemic will not stop metabolic innovation.
Mol Genet Metab
; 130(4): 225-226, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32461011
13.
Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.
Mol Genet Metab
; 116(4): 226-30, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26549574
14.
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
J Pediatr
; 165(2): 401-403.e3, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24880889
15.
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder.
Pediatr Neurol
; 156: 178-181, 2024 Apr 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38788280
16.
Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.
J Pediatr
; 162(2): 324-9.e1, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22901741
17.
Acute management of propionic acidemia.
Mol Genet Metab
; 105(1): 16-25, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22000903
18.
Chronic management and health supervision of individuals with propionic acidemia.
Mol Genet Metab
; 105(1): 26-33, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21963082
19.
Natural history of propionic acidemia.
Mol Genet Metab
; 105(1): 5-9, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21986446
20.
Neurologic considerations in propionic acidemia.
Mol Genet Metab
; 105(1): 10-5, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22078457