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Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

Bae H, Kim MS, Park H, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute...
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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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A case of de novo 18p deletion syndrome with panhypopituitarism

Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round...
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism

Moon JE, Lee SJ, Park SH, Kim J, Jin DK, Ko CW

Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions,...
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Etiological trends in male central precocious puberty

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

PURPOSE: In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. METHODS: Seventy-one male CPP subjects who started puberty before 9...
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate...
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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing

Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK

Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals...
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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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Delayed Diagnosis of Atypical Mowat-Wilson Syndrome

Jang MA, Jung YJ, Jin DK, Lee J, Cho EH, Jang JH, Ki CS

No abstract available.
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Estrogen-mediated Height Control in Girls with Marfan Syndrome

Lee DY, Hyun HS, Huh R, Jin DK, Kim DK, Yoon BK, Choi D

This study evaluated the efficacy of a stepwise regimen of estradiol valerate for height control in girls with Marfan syndrome. Eight girls with Marfan syndrome who had completed estrogen treatment...
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CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

Hong G, Park HD, Choi R, Jin DK, Kim JH, Ki CS, Lee SY, Song J, Kim JW

CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions....
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Disease-specific Growth Charts of Marfan Syndrome Patients in Korea

Kwun Y, Kim SJ, Lee J, Isojima T, Choi DS, Kim DK, Huh J, Kang IS, Chang M, Cho SY, Sohn YB, Park SW, Jin DK

Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore,...
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Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases

Kim H, Kim J, Huh R, Cho SY, Jin DK

We report a 13-year-old girl with Graves disease, who showed an increased level of serum creatine kinase (CK) accompanied by myalgia after methimazole (MMI) treatment. This patient developed muscular pain...
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Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK

PURPOSE: Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might...
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Guidelines for genetic skeletal dysplasias for pediatricians

Cho SY, Jin DK

Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to...
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Acute myocardial infarction caused by a floating thrombus in the proximal ascending aorta

Jeon W, Lee SJ, Park SH, Lee SW, Shin WY, Jin DK

No abstract available.
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Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK

Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme...
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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

Yoo Y, Chang MS, Lee J, Cho SY, Park SW, Jin DK, Park HD

PURPOSE: The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and...
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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

Kim SJ, Cho SY, Maeng SH, Sohn YB, Kim SJ, Ki CS, Jin DK

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary...
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Takotsubo Cardiomyopathy Associated with Severe Hypocalcemia Secondary to Idiopathic Hypoparathyroidism

Rhee HS, Lee SW, Jung YK, Jeon U, Park SH, Lee SJ, Sin WY, Jin DK

The etiology and pathophysiology of takotsubo cardiomyopathy have not yet been fully clarified. We report a case of takotsubo cardiomyopathy associated with severe hypocalcemia secondary to hypoparathyroidism. A 69-year-old woman...
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