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2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents.
Annals of Pediatric Endocrinology and Metabolism.
28,
3
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DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.
ANNALS OF CLINICAL AND LABORATORY SCIENCE.
53,
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Therapeutic Potential of Intracerebroventricular rhSGSH enzyme replacement therapy in MPSIIIA mice.
성균관대학교 일반대학원.
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Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
JOURNAL OF PERSONALIZED MEDICINE.
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5
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Association Between Non-invasive Diagnostic Methods of Liver Fibrosis and Type 2 Diabetes in Pediatric Patients With Non-alcoholic Fatty Liver Disease.
FRONTIERS IN PEDIATRICS.
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Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndrome.
EPIDEMIOLOGY AND HEALTH.
44,
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Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
BMC MEDICAL GENOMICS.
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The role of growth hormone device optimization in patient-reported outcomes: real-world evidence from South Korea.
EXPERT REVIEW OF MEDICAL DEVICES.
18,
1
(2020)
Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.
FRONTIERS IN GENETICS.
11,
1
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Multisystem Inflammatory Syndrome in Children Related to COVID-19: the First Case in Korea.
JOURNAL OF KOREAN MEDICAL SCIENCE.
35,
43
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Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.
DIAGNOSTICS.
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Trends of Sensitization to Inhalant Allergens in Korean Children Over the Last 10 Years.
YONSEI MEDICAL JOURNAL.
61,
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Clinical, Hormonal, and Neuroradiological Characteristics and Therapeutic Outcomes of Prolactinomas in Children and Adolescents at a Single Center.
FRONTIERS IN ENDOCRINOLOGY.
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Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency.
SCIENTIFIC REPORTS.
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Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.
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14,
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Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature.
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24,
3
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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.
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Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
ANNALS OF HUMAN GENETICS.
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3
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A case of de novo 18p deletion syndrome with panhypopituitarism.
Ann Pediatr Endocrinol Metab..
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1
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
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4
