- A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family
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Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M
- KMID: 2470104
- J Genet Med.
- 2019 Dec;16(2):85-89.
- doi: 10.5734/JGM.2019.16.2.85
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier... -
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- Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
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Heo S, Jang JH, Yu J
- KMID: 2460768
- Ann Pediatr Endocrinol Metab.
- 2019 Sep;24(3):199-202.
- doi: 10.6065/apem.2019.24.3.199
Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused... -
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- Analysis of Major Factors Affecting False Positive Results in Neonatal Screening Test within 3 Days after Birth
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Kim TK, Lee SH, Yu ST, Oh YK
- KMID: 2460029
- Perinatology.
- 2019 Sep;30(3):154-159.
- doi: 10.14734/PN.2019.30.3.154
OBJECTIVE: We examined the factors affecting the false positive results in the accidental neonatal screening test (NST) within 3 days after birth and tried to find out the most relevant... -
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- Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants
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Kum CD, Lee MJ, Park MS, Sohn YB, Noh K, Lee JH
- KMID: 2440699
- Neonatal Med.
- 2019 Feb;26(1):41-47.
- doi: 10.5385/nm.2019.26.1.41
PURPOSE: 17-Hydroxyprogesterone (17-OHP) screening results are difficult to interpret owing to the many influencing factors, and confirming the test results takes time. In this study, we examined the factors that... -
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- A Case with Thyroid Hormone Resistance Syndrome
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Lee H, Lee J, Lee DH
- KMID: 2437878
- Soonchunhyang Med Sci.
- 2018 Dec;24(2):220-222.
- doi: 10.0000/sms.2018.24.2.220
Thyroid hormone resistance is a rare syndrome of reduced tissue responsiveness to thyroid hormone. We report the case of a 13-month girl with short height and low weight. She was... -
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- Clinical Features of Critical Congenital Heart Disease in Term Infants with Hypoxemia: A Single-Center Study in Korea
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Choi EK, Shin JH, Jang GY, Choi BM
- KMID: 2436131
- Neonatal Med.
- 2018 Nov;25(4):137-143.
- doi: 10.5385/nm.2018.25.4.137
PURPOSE: This study was performed to determine the clinical features of full-term infants with hypoxemia detected by pulse oximetry and to establish the diagnosis of critical congenital heart disease (CCHD). METHODS:... -
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- Cystic Fibrosis: Clinical Phenotypes in Children and Adolescents
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dos Santos ALM, de Melo Santos H, Nogueira M, Távora HT, de Lourdes Jaborandy Paim da Cun C, de Melo Seixas RBP, de Freitas Velloso Monte L, de Carvalho E
- KMID: 2421993
- Pediatr Gastroenterol Hepatol Nutr.
- 2018 Oct;21(4):306-314.
- doi: 10.5223/pghn.2018.21.4.306
PURPOSE: The objective of this study was to describe the clinical phenotypes of children and adolescents with cystic fibrosis (CF); and to assess the role of pancreatic insufficiency and neonatal... -
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- Newborn Hearing Screening Test: A Comparison between Infants in Neonatal Intensive Care Unit versus Nursery
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Yang M, Choi JW, Kim JS, Ahn SY, Sung SI, Chang YS, Park WS
- KMID: 2421577
- Perinatology.
- 2018 Sep;29(3):121-127.
- doi: 10.14734/PN.2018.29.3.121
OBJECTIVE: The purpose of this study is to compare the clinical characteristics of newborn hearing test results between infants in well-baby nursery (WBN) versus neonatal intensive care unit (NICU) and... -
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- Newborn Screening for Critical Congenital Heart Defects Using Pulse Oximetry
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Shin J, Choi BM
- KMID: 2468551
- Perinatology.
- 2018 Jun;29(2):63-71.
- doi: 10.14734/PN.2018.29.2.63
Critical congenital heart defects can lead to serious morbidity and mortality if not found at the appropriate time. Although prenatal ultrasound and postnatal neonatal physical examination can detect the majority... -
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- Clinical Manifestations, Gene Analysis of Patients with 3-Methylcrotonyl-CoA Carboxylase Deficiency
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Lee H, Lee B, Jung SY, Lee J, Hong YH, Lee DH
- KMID: 2437767
- Soonchunhyang Med Sci.
- 2018 Jun;24(1):55-58.
- doi: 10.0000/sms.2018.24.1.55
OBJECTIVE: 3-Methylcrotonyl CoA carboxylase deficiency (3MCCD) is classified as organic acid disease due to leucine catabolism. It is among the most common inborn errors of metabolism identified on newborn screening... -
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- The First Newborn Screening Study of T-Cell Receptor Excision Circle and κ- Deleting Recombination Excision Circle for Severe Combined Immunodeficiency in Korea: A Pilot Study
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Son S, Kang JM, Kim JM, Sung S, Kim YS, Lee H, Kim BR, Lee YK, Ko SY, Shin SM, Kim YJ
- KMID: 2401387
- Pediatr Infect Vaccine.
- 2017 Dec;24(3):134-140.
- doi: 10.14776/piv.2017.24.3.134
PURPOSE: Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we... -
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- Clinical course of infants with congenital heart disease who developed thyroid dysfunction within 100 days
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Lee HJ, Yu HW, Kim GB, Shin CH, Yang SW, Lee YA
- KMID: 2400782
- Ann Pediatr Endocrinol Metab.
- 2017 Dec;22(4):253-258.
- doi: 10.6065/apem.2017.22.4.253
PURPOSE: We investigated the clinical course of infants with congenital heart disease (CHD) who experienced thyroid dysfunction within 100 days of birth. METHODS: We performed retrospective medical reviews of 54 CHD... -
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- Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
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Kim YM, Seo GH, Kim GH, Yoo HW, Lee BH
- KMID: 2386605
- J Genet Med.
- 2017 Jun;14(1):23-26.
- doi: 10.5734/JGM.2017.14.1.23
Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes... -
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- Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland
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Park IS, Yoon JS, So CH, Lee HS, Hwang JS
- KMID: 2383906
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):115-118.
- doi: 10.6065/apem.2017.22.2.115
PURPOSE: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs.... -
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- Intellectual development in preschool children with early treated congenital hypothyroidism
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Seo MK, Yoon JS, So CH, Lee HS, Hwang JS
- KMID: 2383904
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):102-107.
- doi: 10.6065/apem.2017.22.2.102
PURPOSE: Delayed treatment of congenital hypothyroidism (CH) is a common cause of mental retardation. The aim of the present study was to evaluate intellectual outcomes in preschool children with treated... -
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- A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening
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Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW
- KMID: 2373595
- Ann Lab Med.
- 2016 Nov;36(6):561-572.
- doi: 10.3343/alm.2016.36.6.561
BACKGROUND: A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the... -
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- Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
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An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH
- KMID: 2362253
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S45-S48.
- doi: 10.3345/kjp.2016.59.11.S45
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in... -
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- Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
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Cho KL, Kim YJ, Yang SH, Kim GH, Lee JH
- KMID: 2362252
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S41-S44.
- doi: 10.3345/kjp.2016.59.11.S41
We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid... -
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- Usefullness of 1000 Hz Tympanometry in the Results of Newborn Hearing Screening
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Ryu SH, Chang J, Sung TJ, Lee HM, Park JH, Kim MJ, Kim JH, Park SK
- KMID: 2359364
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2016 Nov;59(11):764-769.
- doi: 10.3342/kjorl-hns.2016.59.11.764
BACKGROUND AND OBJECTIVES: This study aimed to verify and compare the results of newborn hearing screening (NHS) with that of 1000 Hz tympanometry conducted for newborns. SUBJECTS AND METHOD: For the... -
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- Disparity between Clinical and Ultrasound Examinations in Neonatal Hip Screening
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Kyung BS, Lee SH, Jeong WK, Park SY
- KMID: 2412347
- Clin Orthop Surg.
- 2016 Jun;8(2):203-209.
- doi: 10.4055/cios.2016.8.2.203
BACKGROUND: For early detection of developmental dysplasia of the hip (DDH), neonatal hip screening using clinical examination and/or ultrasound has been recommended. Although there have been many studies on the... -
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