Thornton PS - Search Results

1

Hyperinsulinemic Hypoglycemia Associated with a Ca_V1.2 Variant with Mixed Gain- and Loss-of-Function Effects.

Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N. Kummer S, et al. Among authors: thornton ps. Int J Mol Sci. 2022 Jul 22;23(15):8097. doi: 10.3390/ijms23158097. Int J Mol Sci. 2022. PMID: 35897673 Free PMC article.

2

Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism.

De Cosio AP, Thornton P. De Cosio AP, et al. Paediatr Drugs. 2019 Jun;21(3):123-136. doi: 10.1007/s40272-019-00334-w. Paediatr Drugs. 2019. PMID: 31218604 Review.

3

A syndrome of congenital hyperinsulinism and hyperammonemia.

Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS. Weinzimer SA, et al. Among authors: thornton ps. J Pediatr. 1997 Apr;130(4):661-4. doi: 10.1016/s0022-3476(97)70256-7. J Pediatr. 1997. PMID: 9108870

4

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA. Pinney SE, et al. J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414. J Clin Invest. 2008. PMID: 18596924 Free PMC article.

5

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Genet Med. 2019 Jan;21(1):233-242. doi: 10.1038/s41436-018-0013-9. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907798 Free PMC article.

6

Recent updates in the management of infants and children with hyperinsulinism.

Thornton PS. Thornton PS. Curr Opin Pediatr. 2021 Aug 1;33(4):424-429. doi: 10.1097/MOP.0000000000001022. Curr Opin Pediatr. 2021. PMID: 34001718 Review.

7

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families.

Banerjee I, Raskin J, Arnoux JB, De Leon DD, Weinzimer SA, Hammer M, Kendall DM, Thornton PS. Banerjee I, et al. Among authors: thornton ps. Orphanet J Rare Dis. 2022 Feb 19;17(1):61. doi: 10.1186/s13023-022-02214-y. Orphanet J Rare Dis. 2022. PMID: 35183224 Free PMC article. Review.

8

Congenital Hyperinsulinism: An Historical Perspective.

Thornton PS, Stanley CA, De Leon DD. Thornton PS, et al. Horm Res Paediatr. 2022;95(6):631-637. doi: 10.1159/000526442. Epub 2022 Nov 29. Horm Res Paediatr. 2022. PMID: 36446321 Free article. Review.

9

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA. Nestorowicz A, et al. Among authors: thornton ps. Hum Mol Genet. 1996 Nov;5(11):1813-22. doi: 10.1093/hmg/5.11.1813. Hum Mol Genet. 1996. PMID: 8923011

10

Insulin-like growth factor binding protein-1 levels in the diagnosis of hypoglycemia caused by hyperinsulinism.

Levitt Katz LE, Satin-Smith MS, Collett-Solberg P, Thornton PS, Baker L, Stanley CA, Cohen P. Levitt Katz LE, et al. Among authors: thornton ps. J Pediatr. 1997 Aug;131(2):193-9. doi: 10.1016/s0022-3476(97)70153-7. J Pediatr. 1997. PMID: 9290603

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