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1.
Utilization and perspectives of weight loss medications in pediatric metabolic dysfunction-associated steatotic liver disease.
J Pediatr Gastroenterol Nutr;
2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38698664
2.
Update on glycogen storage disease: primary hepatic involvement.
Curr Opin Pediatr;
34(5): 496-502, 2022 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35942643
3.
The 21st Century Cures Act and Multiuser Electronic Health Record Access: Potential Pitfalls of Information Release.
J Med Internet Res;
24(2): e34085, 2022 02 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35175207
4.
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Mol Genet Metab;
134(3): 217-222, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34625341
5.
A Case of Dubin-Johnson Syndrome Presenting as Neonatal Cholestasis With Paucity of Interlobular Bile Ducts.
Pediatr Dev Pathol;
24(2): 154-158, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33470920
6.
Ontogenesis and Modulation of Intestinal Unesterified Cholesterol Sequestration in a Mouse Model of Niemann-Pick C1 Disease.
Dig Dis Sci;
65(1): 158-167, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31312996
7.
Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann-Pick type C disease.
Biochim Biophys Acta;
1841(1): 54-61, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24076310
8.
Impact of the loss of caveolin-1 on lung mass and cholesterol metabolism in mice with and without the lysosomal cholesterol transporter, Niemann-Pick type C1.
Biochim Biophys Acta;
1841(7): 995-1002, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24747682
9.
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
Hepatology;
58(3): 958-65, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23424026
10.
Systemic administration of 2-hydroxypropyl-ß-cyclodextrin to symptomatic Npc1-deficient mice slows cholesterol sequestration in the major organs and improves liver function.
Clin Exp Pharmacol Physiol;
41(10): 780-7, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25115571
11.
Electronic phenotypes to distinguish clinician attention to high body mass index, hypertension, lipid disorders, fatty liver and diabetes in pediatric primary care: Diagnostic accuracy of electronic phenotypes compared to masked comprehensive chart review.
Pediatr Obes;
18(10): e13066, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37458161
12.
Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment.
J Neurosci;
31(25): 9404-13, 2011 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-21697390
13.
Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease.
Lipids;
57(1): 3-16, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34618372
14.
Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations.
J Lipid Res;
52(4): 688-98, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21289032
15.
Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid.
J Lipid Res;
51(5): 933-44, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19965601
16.
Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life.
Pediatr Res;
68(4): 309-15, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20581737
17.
Delineation of metabolic responses of Npc1-/-nih mice lacking the cholesterol-esterifying enzyme SOAT2 to acute treatment with 2-hydroxypropyl-ß-cyclodextrin.
Steroids;
164: 108725, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32890578
18.
Hepatic Steatosis in the Pediatric Population: An Overview of Pathophysiology, Genetics, and Diagnostic Workup.
Clin Liver Dis (Hoboken);
17(3): 191-195, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33868664
19.
Lysosomal Acid Lipase Activity: A Tool for the Detection and Management of Fatty Liver Disease?
EBioMedicine;
2(7): 638-9, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26286464
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