- A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing
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Suh Ya, Sohn YB, Park MS, Lee JH
- KMID: 2516491
- Neonatal Med.
- 2021 May;28(2):89-93.
- doi: 10.5385/nm.2021.28.2.89
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy... -
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- Neonatal Diabetes Mellitus Due to KCNJ11 (KIR6.2) Mutation Successfully Treated with Sulfonylurea
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Jang S, Yang M, Ahn SY, Sung SI, Chang YS, Park WS
- KMID: 2516492
- Neonatal Med.
- 2021 May;28(2):94-98.
- doi: 10.5385/nm.2021.28.2.94
Neonatal diabetes mellitus (NDM) is a rare disease that occurs at less than 6 months of age and is presumably caused by a mutation in the gene that affects pancreatic... -
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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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- Intussusception and Jejunal Atresia Caused by an Ectopic Pancreas in a Newborn
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Kim HS, Lee SY, Han SH, Nam SH, Jo CK, Kim MJ
- KMID: 2516488
- Neonatal Med.
- 2021 May;28(2):72-76.
- doi: 10.5385/nm.2021.28.2.72
Ectopic pancreas is defined as an abnormally located pancreatic tissue not sufficiently connected with the normal pancreas, which rarely occurs in neonates. To our knowledge, only a few cases of... -
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- Disseminated Postnatal Cytomegalovirus Infection in a Preterm Neonate: Autopsy Case Report
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Kim KY, Kim EK, Park SH, Kim YJ, Shin SH, Kim HS
- KMID: 2516490
- Neonatal Med.
- 2021 May;28(2):83-88.
- doi: 10.5385/nm.2021.28.2.83
Treatment guidelines for postnatal cytomegalovirus (pCMV) infection in preterm have not been established yet. Neutropenia, thrombocytopenia, hepatitis, colitis, and sepsis-like disease are among the clinical manifestations, which range from moderate... -
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- Influence of Postconceptional Age on the Renal Biomarkers in Very-Low-Birth-Weight Infants
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Lee RS, Shin SY, Jung WH, Park JH
- KMID: 2516487
- Neonatal Med.
- 2021 May;28(2):65-71.
- doi: 10.5385/nm.2021.28.2.65
Purpose: We investigated whether consecutive levels of new emerging renal biomarkers, including serum cystatin C (CysC) and urinary neutrophil gelatinase-associated lipocalin (NGAL)/creatinine (Cr) ratio, were affected by postconceptional age in... -
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