Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32668217
2.
The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
Mol Genet Metab
; 140(3): 107693, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37716025
3.
Charles Scriver: Epitome of the physician scientist.
Mol Genet Metab
; 137(4): 388-398, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36503822
4.
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
Mol Genet Metab
; 129(3): 177-185, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31883647
5.
Revising the Psychiatric Phenotype of Homocystinuria.
Genet Med
; 21(8): 1827-1831, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30643218
6.
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.
Genet Med
; 21(8): 1851-1867, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30546086
7.
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Mol Genet Metab
; 128(4): 415-421, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31623983
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
Inglês
| MEDLINE | ID: mdl-30718057
9.
Is More Effective Newborn Screening for Homocystinuria on the Horizon?
Clin Chem
; 69(5): 433-434, 2023 04 28.
Artigo
Inglês
| MEDLINE | ID: mdl-36949665
10.
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.
Mol Genet Metab
; 124(4): 223-229, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29941359
11.
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
Mol Genet Metab
; 125(3): 228-234, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30266197
12.
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).
Mol Genet Metab
; 124(1): 27-38, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29653686
13.
Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria.
J Nutr
; 148(2): 194-201, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29490096
14.
In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930-2023).
J Inherit Metab Dis
; 46(4): 756-757, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37217836
15.
The BabySeq project: implementing genomic sequencing in newborns.
BMC Pediatr
; 18(1): 225, 2018 07 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29986673
16.
Acute Illness Protocol for Maple Syrup Urine Disease.
Pediatr Emerg Care
; 34(1): 64-67, 2018 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-29095391
17.
Acute Illness Protocol for Urea Cycle Disorders.
Pediatr Emerg Care
; 34(6): e115-e119, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29135898
18.
Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.
Mol Genet Metab
; 121(2): 96-103, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28400091
19.
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
Inglês
| MEDLINE | ID: mdl-28054209
20.
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.
Pediatr Emerg Care
; 33(2): 142-146, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28141776