- Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
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Yun JH, Hong YH, Seo GH, Shin YL
- KMID: 2537691
- J Genet Med.
- 2022 Dec;19(2):94-99.
- doi: 10.5734/JGM.2022.19.2.94
Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized... -
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- Comparison of Initial Presentation of Pediatric Diabetes Before and During the Coronavirus Disease 2019 Pandemic Era
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Lee Y, Kim M, Oh K, Kang E, Rhie YJ, Lee J, Hong YH, Shin YL, Kim JH
- KMID: 2530418
- J Korean Med Sci.
- 2022 Jun;37(22):e176.
- doi: 10.3346/jkms.2022.37.e176
Background: Hospital visitation has become challenging during the coronavirus disease 2019 pandemic because of quarantine measures and fear of infection. Consequently, newly diagnosed patients may present with more severe diseases... -
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- Comparative Analysis of Essential Tasks and Delegable Tasks among Kindergarten Dietitians
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Kyung MS, Shin YL, Ham S
- KMID: 2522259
- J Korean Diet Assoc.
- 2021 Nov;27(4):209-231.
- doi: 10.14373/JKDA.2021.27.4.209
The purpose of this study was to compare differences between essential tasks and delegable tasks among public kindergarten dietitians. A survey study was conducted through a self-administered online method from... -
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- Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes
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Shin YL
- KMID: 2517208
- J Genet Med.
- 2021 Jun;18(1):24-30.
- doi: 10.5734/JGM.2021.18.1.24
Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith–Wiedemann syndrome (BWS) and... -
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- A Neonate Diagnosed with Wolff-Parkinson-White Syndrome Presenting with Cardiogenic Shock
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Ha JE, Lee SH, Park GY, Shin YL, Kim SS, Jang MA
- KMID: 2516489
- Neonatal Med.
- 2021 May;28(2):77-82.
- doi: 10.5385/nm.2021.28.2.77
We present the case of a healthy 28-day-old female full-term neonate who was admitted to the neonatal intensive care unit for severe metabolic acidosis, hypoglycemia, and an initial sinus rhythm.... -
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- Diffuse Intracranial Hemorrhages, Acute Peripheral Neuropathy, and Acute Kidney Injury in a Newly Diagnosed Diabetes Patient with Severe Diabetic Ketoacidosis: A Case Report and Literature Review
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Woo YJ, Hong HS, Choi SJ, Shin YL
- KMID: 2510702
- Soonchunhyang Med Sci.
- 2020 Dec;26(2):80-85.
- doi: 10.15746/sms.20.020
Diabetic ketoacidosis (DKA) is a common complication associated with pediatric type 1 diabetes mellitus (DM). Although cerebral edema is the major cause of death in DKA, there is a possibility... -
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- Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
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Shin YL, Park YN, Jang MA
- KMID: 2471802
- J Korean Med Sci.
- 2020 Mar;35(10):e96.
- doi: 10.3346/jkms.2020.35.e96
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency... -
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- The Timing of Rapid Infant Weight Gain in Relation to Childhood Obesity
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Shin YL
- KMID: 2470288
- J Obes Metab Syndr.
- 2019 Dec;28(4):213-215.
- doi: 10.7570/jomes.2019.28.4.213
No abstract available. -
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- Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome
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Shin YL
- KMID: 2465642
- Korean J Pediatr.
- 2019 Nov;62(11):412-413.
- doi: 10.3345/kjp.2019.00220
No abstract available. -
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- Frequency of Self-Monitoring of Blood Glucose during the School Day Is Associated with the Optimal Glycemic Control among Korean Adolescents with Type 1 Diabetes
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Joo EY, Lee JE, Kang HS, Park SG, Hong YH, Shin YL, Sohn M
- KMID: 2449625
- Diabetes Metab J.
- 2018 Dec;42(6):480-487.
- doi: 10.4093/dmj.2018.0018
BACKGROUND: This study aimed to evaluate the relationship between the frequency of self-monitoring of blood glucose (SMBG) and glycosylated hemoglobin (HbA1c) levels among Korean adolescents with type 1 diabetes mellitus... -
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- Pediatric thyroid disorders
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Shin YL
- KMID: 2426484
- J Korean Med Assoc.
- 2018 Oct;61(10):607-615.
- doi: 10.5124/jkma.2018.61.10.607
Thyroid hormones play an important role in normal growth and development throughout infancy, childhood, and adolescence. Abnormalities of thyroid function during the fetal period and infancy result in impaired development... -
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- Evaluation of Eating Behavior and Nutritional Status Using the Nutrition Quotient in Obese Children
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Lim HS, Kim SK, Park YH, Shin YL
- KMID: 2368802
- Korean J Obes.
- 2016 Dec;25(4):225-232.
- doi: 10.7570/kjo.2016.25.4.225
BACKGROUND: The increasing incidence of pediatric obesity has recently emerged as a social problem, and children's eating behaviors and nutritional statuses directly affect health. Obesity prevention and treatment must involve... -
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- An update on the genetic causes of central precocious puberty
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Shin YL
- KMID: 2328143
- Ann Pediatr Endocrinol Metab.
- 2016 Jun;21(2):66-69.
- doi: 10.6065/apem.2016.21.2.66
Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in... -
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- A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
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Park MJ, Lee DH, Shin YL, Hong YH
- KMID: 2327702
- J Genet Med.
- 2016 Jun;13(1):41-45.
- doi: 10.5734/JGM.2016.13.1.41
Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component... -
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- Turner syndrome masquerading as normal early puberty
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Hong YH, Shin YL
- KMID: 1769357
- Ann Pediatr Endocrinol Metab.
- 2014 Dec;19(4):225-228.
- doi: 10.6065/apem.2014.19.4.225
Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the... -
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- Clinical Follow-up of Children and Adolescents with Hashimoto's Thyroiditis and Hashitoxicosis
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Lee YI, Park JY, Shin YL
- KMID: 2317692
- Soonchunhyang Med Sci.
- 2013 Jun;19(1):17-22.
OBJECTIVE: The purpose is to study the natural course and clinical feature according to thyroid function at diagnosis of Hashimoto's thyroiditis in children and adolescent. We studied to know the... -
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- Comparison of Respiratory Morbidity in Late Preterm and Term Infants at a Single Institution
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Choi WH, Yeon EK, Shin YL, Suh WS, Jin JY
- KMID: 2317653
- Soonchunhyang Med Sci.
- 2012 Dec;18(2):85-90.
OBJECTIVE: This study was carried out to evaluate short-term respiratory morbidity in late preterm births compared with term births at a single center in Korea. METHODS: In retrospective study, we reviewed... -
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- Sterile Abscess Formation Associated with Two Different Forms of Gonadotropin-Releasing Hormone Agonist in Central Precocious Puberty
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Kim JM, Shin YL
- KMID: 1434717
- Ann Pediatr Endocrinol Metab.
- 2012 Sep;17(3):184-188.
- doi: 10.6065/apem.2012.17.3.184
Long-acting formulations of gonadotropin-releasing hormone (GnRH) agonists are indicated for treating central precocious puberty. Leuprolide acetate and triptorelin acetate are widely used in Korea. Local reactions related to GnRH agonists,... -
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- Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening
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Lim HS, Kim H, Kim SS, Kim GH, Yoo HW, Shin YL
- KMID: 2099215
- J Korean Soc Neonatol.
- 2011 Nov;18(2):370-373.
- doi: 10.5385/jksn.2011.18.2.370
Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2.... -
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- Characteristics of Pneumothorax in a Neonatal Intensive Care Unit
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Lim HS, Kim H, Jin JY, Shin YL, Park JO, Kim CH, Kim SS
- KMID: 2099200
- J Korean Soc Neonatol.
- 2011 Nov;18(2):257-264.
- doi: 10.5385/jksn.2011.18.2.257
PURPOSE: The development of postnatal pneumothorax and its common causes and clinical aspects were studied to promote early diagnosis and proper management. METHODS: A retrospective study of neonates who were hospitalized... -
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