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1.
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases.
Proc Natl Acad Sci U S A
; 120(1): e2210442120, 2023 01 03.
Article
in English
| MEDLINE | ID: mdl-36574647
2.
Food Insecurity and Pediatric Nonalcoholic Fatty Liver Disease Severity.
J Pediatr
; 265: 113818, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37931698
3.
Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy.
Hepatology
; 77(3): 862-873, 2023 03 01.
Article
in English
| MEDLINE | ID: mdl-36131538
4.
Cutting Edge: l-Arginine Transfer from Antigen-Presenting Cells Sustains CD4+ T Cell Viability and Proliferation.
J Immunol
; 208(4): 793-798, 2022 02 15.
Article
in English
| MEDLINE | ID: mdl-35101895
5.
Urinary sphingolipids in adolescents and young adults with youth-onset diabetes.
Pediatr Nephrol
; 39(6): 1875-1883, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38172468
6.
Innate immune cell dysfunction and systemic inflammation in children with chronic liver diseases undergoing transplantation.
Am J Transplant
; 23(1): 26-36, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36695617
7.
Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.
Pediatr Blood Cancer
; 70(3): e30149, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36562549
8.
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study.
Lancet
; 398(10311): 1581-1592, 2021 10 30.
Article
in English
| MEDLINE | ID: mdl-34755627
9.
Test-dose pharmacokinetics guided melphalan dose adjustment in reduced intensity conditioning allogeneic transplant for non-malignant disorders.
Br J Clin Pharmacol
; 88(1): 115-127, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34075614
10.
Bile Acid Profiling Reveals Distinct Signatures in Undernourished Children with Environmental Enteric Dysfunction.
J Nutr
; 151(12): 3689-3700, 2021 12 03.
Article
in English
| MEDLINE | ID: mdl-34718665
11.
Improving natural product research translation: From source to clinical trial.
FASEB J
; 34(1): 41-65, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31914647
12.
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
BMC Gastroenterol
; 21(1): 163, 2021 Apr 13.
Article
in English
| MEDLINE | ID: mdl-33849447
13.
l-Arginine Synthesis from l-Citrulline in Myeloid Cells Drives Host Defense against Mycobacteria In Vivo.
J Immunol
; 202(6): 1747-1754, 2019 03 15.
Article
in English
| MEDLINE | ID: mdl-30710047
14.
Model-Informed Bayesian Estimation Improves the Prediction of Morphine Exposure in Neonates and Infants.
Ther Drug Monit
; 42(5): 778-786, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32427759
15.
Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis.
J Pediatr Gastroenterol Nutr
; 70(4): 423-429, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31899729
16.
Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency.
J Pediatr Gastroenterol Nutr
; 71(5): e138-e141, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33093374
17.
Study of Environmental Enteropathy and Malnutrition (SEEM) in Pakistan: protocols for biopsy based biomarker discovery and validation.
BMC Pediatr
; 19(1): 247, 2019 07 22.
Article
in English
| MEDLINE | ID: mdl-31331393
18.
Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Hum Mol Genet
; 25(23): 5126-5141, 2016 12 01.
Article
in English
| MEDLINE | ID: mdl-27655403
19.
Hemolytic anemia and macrothrombocytopenia: A lipid problem?
Am J Hematol
; 98(8): 1335-1340, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36974979
20.
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Hum Mol Genet
; 24(24): 7031-48, 2015 Dec 15.
Article
in English
| MEDLINE | ID: mdl-26420838