Detalhe da pesquisa
1.
Characterization of central manifestations in patients with Niemann-Pick disease type C.
Genet Med
; 26(3): 101053, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38131307
2.
Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox.
Mol Genet Metab
; 139(1): 107579, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37099821
3.
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
N Engl J Med
; 381(17): 1644-1652, 2019 10 24.
Artigo
Inglês
| MEDLINE | ID: mdl-31597037
4.
Temperament, personality, and quality of life in pediatric cancer patients.
J Pediatr Psychol
; 39(4): 459-68, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24443742
5.
Longitudinal prediction of disruptive behavior disorders in adolescent males from multiple risk domains.
Child Psychiatry Hum Dev
; 44(4): 561-72, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23239427
6.
The experience of living with Niemann-Pick type C: a patient and caregiver perspective.
Orphanet J Rare Dis
; 18(1): 120, 2023 05 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37210540
7.
Case report: Chronic pain in a pediatric patient with late-onset pompe disease.
Front Pain Res (Lausanne)
; 4: 1244609, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37841659
8.
Targeting neurological abnormalities in lysosomal storage diseases.
Trends Pharmacol Sci
; 43(6): 495-509, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34844772
9.
Proteomics based markers of clinical pain severity in juvenile idiopathic arthritis.
Pediatr Rheumatol Online J
; 20(1): 3, 2022 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35033099
10.
A multidisciplinary assessment of pain in juvenile idiopathic arthritis.
Semin Arthritis Rheum
; 51(4): 700-711, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34139523
11.
Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.
Nat Metab
; 3(8): 1125-1132, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34294923
12.
First 1.5 years of pegvaliase clinic: Experiences and outcomes.
Mol Genet Metab Rep
; 24: 100603, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32489881
13.
Maternal Depressive Symptoms and At-Risk Young Children's Internalizing Problems: The Moderating Role of Mothers' Positivity.
Merrill Palmer Q (Wayne State Univ Press)
; 63(1): 77-104, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34421173
14.
Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.
Nat Metab
; 4(9): 1214, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35974248
15.
An overview of the "Positive Action for Today's Health" (PATH) trial for increasing walking in low income, ethnic minority communities.
Contemp Clin Trials
; 31(6): 624-33, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20801233