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Annals of Pediatric Endocrinology & Metabolism is now indexed in the Emerging Sources Citation Index

Lee JE

No abstract available.
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Genetic regulation of linear growth

Yue S, Whalen P, Jee YH

Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth...
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A case of immune-mediated type 1 diabetes mellitus due to congenital rubella ınfection

Korkmaz HA, ErmiÅŸ C

Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataracts, patent ductus arteriosus, hearing loss, microcephaly, thrombocytopenia, and severe fetal injury. It has been shown that...
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Screening and management of thyroid dysfunction in preterm infants

Chung HR

Preterm infants can suffer various thyroid dysfunctions associated with developmental immaturity of the hypothalamic-pituitary-thyroid axis, postnatal illness, medications, or iodine supply. The incidence of thyroid dysfunction among preterm infants is...
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Reference range of random urinary calcium creatinine ratio in North Indian children and adolescents

Marwaha RK, Garg MK, Dang N, Mithal A, Narang A, Chadha A, Gupta N, Kumar MR

PURPOSE: Urinary calcium creatinine ratio (UCaCrR) is a reliable indicator for monitoring hypercalciuria following vitamin D supplementation. However, the reference range varies from region to region. Previous studies did not...
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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay

Antoniou M, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, van der Sloot A, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud , Hauschild

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth...
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Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report

Kang SJ, Lee R, Kim HS

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in...
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Response to vitamin D replacement in overweight and normal weight children with vitamin D deficiency

Chung IH, Kang YS, Yoo EG

PURPOSE: It is well known that obesity is related to vitamin D deficiency (VDD). We investigated the response to vitamin D replacement in normal-weight and overweight children. METHODS: This was a...
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Risk assessment of metabolic syndrome in adolescents using the triglyceride/high-density lipoprotein cholesterol ratio and the total cholesterol/high-density lipoprotein cholesterol ratio

Chu SY, Jung JH, Park MJ, Kim SH

PURPOSE: This study was conducted to investigate the distributions of the triglyceride (TG) to high-density lipoprotein-cholesterol (HDL-C) ratio and total cholesterol (TC) to HDL-C ratio, and to explore their usefulness...
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Episodes of prolonged “trance-like state” in an infant with hypothalamic hamartoma

Kumar R, Yadav J, Sahu JK, Tripathi M, Ahuja C, Dayal D

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although...
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Morning basal luteinizing hormone, a good screening tool for diagnosing central precocious puberty

Lee DM, Chung IH

PURPOSE: The standard method used to diagnose central precocious puberty (CPP) is the gonadotropin releasing hormone stimulation test (GnRHST). However, this test is inconvenient for children because it is time-consuming...
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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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