- Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review
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Kim MR, Yoo EG, Rhie S, Seo GH, Jung MK
- KMID: 2549336
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S25-S28.
- doi: 10.6065/apem.2244052.026
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- Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene
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Park K, Lim KI, Sohn YB, Lee HS, Hwang JS
- KMID: 2549335
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S23-S24.
- doi: 10.6065/apem.2244068.034
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- A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patient
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Lee G, Lee MS, Lee R, Moon JE
- KMID: 2549334
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S20-S22.
- doi: 10.6065/apem.2244070.035
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- A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features
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Lee N, Jeong JE, Kim YH, Ki CS, Kim JK
- KMID: 2549333
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S17-S19.
- doi: 10.6065/apem.2244106.053
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- Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication
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Jo Hy, Jang HJ, Kim YM, Choi SH, Park KH, Yoo HW, Park SJ, Jo YH, Kwak MJ
- KMID: 2549332
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S14-S16.
- doi: 10.6065/apem.2244122.061
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- Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis
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Noh ES, Kim C, Cho SY
- KMID: 2549327
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S1-S2.
- doi: 10.6065/apem.2244286.143
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- A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism
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Kim C, Noh Es, Cho SY
- KMID: 2549331
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S12-S13.
- doi: 10.6065/apem.2244130.065
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- Case report of familial hypobetalipoproteinemia: a novel APOB mutation and literature review
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Park SY, Kim HS, Chu MA, Jang HJ, Kang S
- KMID: 2549330
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S9-S11.
- doi: 10.6065/apem.2244180.090
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- A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review
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Kim M, Lee J, Yoo S, Song JY, Yang EJ, Kim SH, Cheon CK, Yoon JY
- KMID: 2549329
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S6-S8.
- doi: 10.6065/apem.2244206.103
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- Maturity-onset diabetes of the young due to NR0B2 gene mutation
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Lee HI, Kwon SS, Lee M, Kim SJ, Song K, Kwon A, Chae HW, Kim HS, Suh J
- KMID: 2549328
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S3-S5.
- doi: 10.6065/apem.2244284.142
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