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Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Shin YL, Park YN, Jang MA

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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Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse

Kim MJ, Lee RU, Oh J, Choi JE, Kim H, Lee K, Hwang SK, Lee JH, Lee JA, Kaang BK, Lim CS, Lee YS

Vacuolar protein sorting-associated protein 13B (VPS13B), also known as COH1, is one of the VPS13 family members which is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Mutations in the...
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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK

PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before...
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Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1

Cho MJ

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in...
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Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development

Park KB, Nam KE, Cho AR, Jang W, Kim M, Park JH

OBJECTIVE: To determine effects of copy number variations (CNV) on developmental aspects of children suspected of having delayed development. METHODS: A retrospective chart review was done for 65 children who underwent...
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Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1

Kim HJ, Na JH, Lee YM

PURPOSE: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is...
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Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...
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Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child

Choe JY, Jang KM, Min SY, Hwang SK, Kang B, Choe BH

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as...
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Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Bak NR, Song ES, Yang EM, Kim CJ

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological...
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Urological Problems in Patients with Menkes Disease

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI

BACKGROUND: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue...
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Clinical Findings of Menkes Disease and the Treatment of Epilepsy

Choi MH, Kim S, Bae SW, Son JS, Lee R

Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair,...
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Esophageal Motor Disorders Are a Strong and Independant Associated Factor of Barrett's Esophagus

Bazin C, Benezech A, Alessandrini M, Grimaud JC, Vitton V

  • KMID: 2413097
  • J Neurogastroenterol Motil.
  • 2018 Apr;24(2):216-225.
  • doi: 10.5056/jnm17090
BACKGROUND/AIMS: Esophageal motor disorder (EMD) has been shown to be associated with gastroesophageal reflux disease (GERD). However, the association of EMD with a Barrett's esophagus (BE) is controversial. Our objective...
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Etiological Classification and Developmental Outcomes in Floppy Infants: A Single Tertiary Center Experience

Park JM, Choi YH, Lee HN, Chung HJ

PURPOSE: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes...
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A Novel c.826G>A Mutation in a Boy with Allan-Herndon-Dudley Syndrome: Clinical Significance of Thyroid Function Tests in Developmental Delay of Unknown Origin

Shin EK, Park BH, Moon JH, Kim JH, Yoo HW, Kim GH

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability caused by monocarboxylate transporter 8 (MCT8) deficiency. AHDS manifests in global developmental delay, axial hypotonia, quadriplegia, movement disorders in male patients, and...
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Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay

Lee KY, Shin E

PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH)...
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Anesthetic considerations in a child with Sotos syndrome: A case report

Chung JY, Kim G, Park JH, Choi HK, Park BH, Choi MY, Kim JS

Sotos syndrome is a rare sporadic genetic disorder characterized by pathognomonic facial features, motor developmental delay induced by hypotonia, learning difficulties, and cardiac and renal anomalies. This report describes the...
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Clinical characteristics of pregnancies complicated by congenital myotonic dystrophy

Yee C, Choi SJ, Oh SY, Ki CS, Roh CR, Kim JH

OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate...
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Ileal Atresia Presenting with Massive Chylous Ascites and Hydrocele in a Newborn

Kim J, Hong YJ, Cho HH, Shim SY, Park EA, Cho SJ

We report a case of ileal atresia presenting with massive chylous ascites and hydrocele in a neonate. A male neonate was born at 38 weeks of gestation with a weight...
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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Cho EK, Kim J, Yang A, Cho SY, Jin DK

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a...
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Miller-Dieker Syndrome in an Extremely Low Birth Weight Infant

Park SJ, Lee NR, Bae MH, Han YM, Byun SY, Park KH

Miller-Dieker syndrome (MDS) is characterized by severe lissencephaly and facial dysmorphism including the prominent forehead, bitemporal hollowing, a short nose with upturned nares, a protuberant upper lip, and a small...
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