Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Arum Oh"'
Autor:
Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom Hee Lee, Baik-Lin Eun
Publikováno v:
Molecular Medicine, Vol 28, Iss 1, Pp 1-15 (2022)
Abstract Background The diagnostic yield of whole-exome sequencing (WES) varies from 30%–50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients ha
Externí odkaz:
https://doaj.org/article/4cf814bc387f4a96a50b40323f14c258
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 27, Iss 2, Pp 142-147 (2021)
Primary hyperparathyroidism (PHPT) is a hypercalcemia disorder with inappropriately normal or increased serum parathyroid hormone (PTH) levels resulting from excessive secretion of PTH from one or more of the parathyroid glands. PHPT is uncommon in i
Externí odkaz:
https://doaj.org/article/5a9436a94a304ca5951202911f83a88a
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 112-117 (2020)
Purpose Oral supplementation of vitamin D can be inefficient in patients with vitamin D deficiency caused by intestinal malabsorption. This study investigated the efficacy and safety of parenteral vitamin D supplementation in infants and children wit
Externí odkaz:
https://doaj.org/article/e04163631ed642d7b440d6d8429ae5d8
Autor:
Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park, Jung Eun Moon, Cheol Woo Ko, Chong-Kun Cheon, Han-Wook Yoo
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 2, Pp 97-103 (2020)
Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous gen
Externí odkaz:
https://doaj.org/article/1322a94709504038b2d82a505f95cafc
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 4, Pp 231-236 (2019)
Purpose Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The differential diagnosis of thes
Externí odkaz:
https://doaj.org/article/146b5effbaa24685a92ccfbb31c6a626
Publikováno v:
Childhood Kidney Diseases, Vol 19, Iss 2, Pp 171-175 (2015)
Nephrotic syndrome (NS) is a common chronic disease in children; in 90 percent of cases, the condition is primary (idiopathic). Toxic nephropathy can be induced by herbal medicines, and is mainly manifested as tubulointerstitial nephritis and rarely,
Externí odkaz:
https://doaj.org/article/2e511f2381a9453388af9bd3d18865c0
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism. Jun2022, Vol. 27 Issue 2, p142-147. 6p.
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism. 27:142-147
Primary hyperparathyroidism (PHPT) is a hypercalcemia disorder with inappropriately normal or increased serum parathyroid hormone (PTH) levels resulting from excessive secretion of PTH from one or more of the parathyroid glands. PHPT is uncommon in i
Publikováno v:
International Journal of Thyroidology. 15:54-59
Publikováno v:
Experimental and Clinical Endocrinology & Diabetes. 129:457-463
Background Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) has a wide phenotypic spectrum including Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). FGFR1 mutations have been identified in 3–10%