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pro vyhledávání: '"Rosie Lee"'
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 4, Pp 308-311 (2023)
Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transferase 1 (EHMT1) gene. It can be accompanied by intellectual disability, distinctive facial features, microcephaly, psychiatri
Externí odkaz:
https://doaj.org/article/bea73036584c4c8f92e7bf8576ab65d1
Publikováno v:
Children, Vol 11, Iss 4, p 404 (2024)
Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmenta
Externí odkaz:
https://doaj.org/article/560e673cb5d54580b3590365385c2e93
Publikováno v:
Children, Vol 11, Iss 3, p 370 (2024)
Aim: This study investigated the sex-specific association between thyroid function and various insulin resistance (IR) indices, including noninsulin-based IR indices, in euthyroid adolescents. Methods: A total of 465 adolescents (aged 12–18 years;
Externí odkaz:
https://doaj.org/article/13194754eb4a46648e20b40f3115183c
Autor:
Mi-Seon Lee, Rosie Lee, Sook-Hyun Park, Soon Hak Kwon, Jin-Young Park, Sang-Woo Lee, So-Mi Lee, Jung-Eun Moon
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 4, Pp 302-307 (2022)
Pheochromocytoma (PCC) occurs in 4% of pediatric neurofibromatosis type 1 (NF1) patients and is characterized by epinephrine and norepinephrine secretion. Herein, we report the first case of dopamine-secreting PCC in a 13-year-old patient with NF1. A
Externí odkaz:
https://doaj.org/article/2825b6bb2fd44d29b68826228df3e16d
Publikováno v:
Journal of Yeungnam Medical Science, Vol 39, Iss 1, Pp 46-52 (2022)
Background The coronavirus disease 2019 (COVID-19) outbreak in the Daegu-Gyeongbuk area in 2020 has caused difficulties in the daily life and hospital care of children with type 1 diabetes mellitus (T1DM). We detected an increase in blood sugar level
Externí odkaz:
https://doaj.org/article/9065c2ac6e234e17bced1d55c3e30773
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss Suppl 1, Pp S20-S22 (2022)
Externí odkaz:
https://doaj.org/article/3b86149ed2f641d0bf9c7dcb4bb9e165
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 24, Iss 1, Pp 64-67 (2019)
Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in t
Externí odkaz:
https://doaj.org/article/0dc99e777ab740c18e34bfcd212ef4e7
Autor:
Mi-Seon Lee1,2, Rosie Lee1, Sook-Hyun Park1, Soon Hak Kwon1, Jin-Young Park3, Sang-Woo Lee4, So-Mi Lee5, Jung-Eun Moon1 subuya@daum.net
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism. Dec2023, Vol. 28 Issue 4, p302-306. 6p.
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism; 2023 Supplement, Vol. 28, pS20-S22, 3p
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism.
Idiopathic hypogonadotropic hypogonadism (IHH) is a disease that shows symptoms of no or incomplete sexual maturation after 18 years old. The mutation of gonadotropin releasing hormone receptor gene (GNRHR) has been reported as the cause in 16% of to