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An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism

Lee SJ, Moon JE, Lee GM, Cho MH, Ko CW

Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients...
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Eating speed and the risk of type 2 diabetes: explorations based on real-world evidence

Gudi SK

Metabolic syndrome, especially diabetes, has gained global attention over the past few decades and became one of the major public health concerns. Alongside known and well-established risk factors, eating behaviors,...
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Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Son HW, Lee JE, Oh SH, Keum C, Chung WY

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short...
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Deciphering short stature in children

Polidori N, Castorani V, Mohn A, Chiarelli F

Short stature is a common reason for referral to pediatric endocrinologists. Multiple factors, including genetic, prenatal, postnatal, and local environmental factors, can impair growth. The majority of children with short...
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Minipuberty of human infancy – A window of opportunity to evaluate hypogonadism and differences of sex development?

Renault CH, Aksglaede L, Wøjdemann D, Hansen AB, Jensen RB, Juul A

Activation of the hypothalamic-pituitary-gonadal (HPG) axis happens in 3 phases during life. The first phase is during fetal life and is only separated from the second phase, called minipuberty, by...
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Serum uric acid in Korean children and adolescents: reference percentiles and association with metabolic syndrome

Cho MH, Kim YM, Yoon JH, Kim DH, Lim JS

Purpose: To establish age/sex-specific reference intervals for serum uric acid and to examine the associations between serum uric acid level and metabolic syndrome (MetS) and its components in Korean children...
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Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption

Yu SB, Lee Y, Oh A, Yoo HW, Choi JH

Purpose: Oral supplementation of vitamin D can be inefficient in patients with vitamin D deficiency caused by intestinal malabsorption. This study investigated the efficacy and safety of parenteral vitamin D...
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Body fat composition and miR-378 expression profiling in patients with type 1 diabetes

Duarte L, García-Díaz DF, Pérez-Bravo F

Purpose: Type 1 diabetes (T1D) is an autoimmune disease that involves genetic, epigenetic, and environmental factors. Change in body composition is a potential mechanism for explaining the increased incidence of...
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Prevalence of idiopathic scoliosis in girls with central precocious puberty: effect of a gonadotropin-releasing hormone agonist

Chung LY, Nam HK, Rhie YJ, Huh R, Lee KH

Purpose: Adolescent idiopathic scoliosis (AIS) is the most common form of scoliosis and occurs in children between 10 to 18 years old, during periods of growth spurts and puberty changes....
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Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

Lee Y, Choi JH, Oh A, Kim GH, Park SH, Moon JE, Ko CW, Cheon CK, Yoo HW

Purpose: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is...
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