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Retraction: Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene

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The following case report article from Annals of Pediatric Endocinology & Metabolism, "Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene,"1) published on December 31, 2015 has been retracted...
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Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

Cheon CK

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be...
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Diagnostic difficulties by the unusual presentations in children and adolescents with Hashimoto thyroiditis

Ersoy B, Seniha KY, Kızılay , Yılmaz M, Coşkun S

Complex clinical presentation with diverse timing of particular symptoms may cause diagnostic difficulties, especially in children and adolescents. This paper presents diagnostic difficulties and pitfalls in 3 children with acquired...
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Exosomes as the source of biomarkers of metabolic diseases

Lee MJ, Park DH, Kang JH

Exosomes are extracellular vesicles that contain molecules that regulate the metabolic functions of adjacent or remote cells. Recent in vitro, in vivo and clinical studies support the hypothesis that exosomes...
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Endocrine complications during and after adolescence in a patient with cystinosis

Ahn MB, Kim SE, Cho WK, Jung MH, Suh BK

Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a...
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Vitamin D deficiency in children aged 6 to 12 years: single center's experience in Busan

Roh YE, Kim BR, Choi WB, Kim YM, Cho MJ, Kim HY, Park KH, Kim KH, Chun P, Kim SY, Kwak MJ

PURPOSE: This study investigated the prevalence and risk factors associated with vitamin D deficiency in children. METHODS: We analyzed the medical records of 330 patients from the age of 6 to...
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A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody

Kim MR, Park HW, Chung S

In adults, hypothyroidism caused by thyroid stimulation blocking antibody (TSB Ab) is rare, and confirmed cases are even fewer, as TSB Ab levels are rarely assayed. However, this may create...
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Body image and depression in girls with idiopathic precocious puberty treated with gonadotropin-releasing hormone analogue

Choi MS, Kim EY

PURPOSE: Precocious puberty (PP) is associated with psychological and behavioral problems. This study aimed to evaluate the perception of body image and depression in girls with PP receiving gonadotropin-releasing hormone...
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The cutoff values of indirect indices for measuring insulin resistance for metabolic syndrome in Korean children and adolescents

Kim JW, Park SH, Kim Y, Im M, Han HS

PURPOSE: The prevalence rates of metabolic syndrome (MetS) and percentile distribution of insulin resistance (IR) among Korean children and adolescents were investigated. The cutoff values of IR were calculated to...
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Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A

Cho JH, Kang E, Kim GH, Lee BH, Choi JH, Yoo HW

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who...
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Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty

Kang E, Cho JH, Choi JH, Yoo HW

PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male...
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