Detalhe da pesquisa
1.
Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.
Pediatr Diabetes
; 23(2): 212-218, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34792267
2.
Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome.
J Urol
; 200(5): 1107-1113, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29883657
3.
Sulfonylurea challenge test in subjects diagnosed with type 1 diabetes mellitus.
Pediatr Diabetes
; 18(8): 777-784, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111849
4.
A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
Proc Natl Acad Sci U S A
; 111(49): E5292-301, 2014 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25422446
5.
Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome.
Front Neurosci
; 16: 795317, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35495027
6.
Insights from an Intervention to Support Early Career Faculty with Extraprofessional Caregiving Responsibilities.
Womens Health Rep (New Rochelle)
; 2(1): 355-368, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476418
7.
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
JCI Insight
; 6(15)2021 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185708
8.
Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation.
Pediatr Diabetes
; 11(4): 286-8, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19656320
9.
Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism.
J Clin Endocrinol Metab
; 105(12)2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32810255
10.
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Bone
; 124: 14-21, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30914273
11.
Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.
Sci Rep
; 9(1): 5199, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30914711
12.
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Sci Rep
; 6: 21167, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888576
13.
Selective cognitive and psychiatric manifestations in Wolfram Syndrome.
Orphanet J Rare Dis
; 10: 66, 2015 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025012
14.
Phenotypic characteristics of early Wolfram syndrome.
Orphanet J Rare Dis
; 8: 64, 2013 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23981289
15.
Reliability and validity of the Wolfram Unified Rating Scale (WURS).
Orphanet J Rare Dis
; 7: 89, 2012 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23148655
16.
Remission of severe neonatal diabetes with very early sulfonylurea treatment.
Diabetes Care
; 38(3): e38-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25715421
17.
Fatal malignant hyperthermia-like syndrome with rhabdomyolysis complicating the presentation of diabetes mellitus in adolescent males.
Pediatrics
; 111(6 Pt 1): 1447-52, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12777570
18.
Enhanced O-GlcNAc protein modification is associated with insulin resistance in GLUT1-overexpressing muscles.
Am J Physiol Endocrinol Metab
; 283(2): E241-50, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12110528
19.
Hypoglycemia, defective islet glucagon secretion, but normal islet mass in mice with a disruption of the gastrin gene.
Gastroenterology
; 125(4): 1164-74, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14517799