(2023)
A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism.
Annals of pediatric endocrinology & metabolism..
1,
1
(2023)
Growth hormone treatment for children with mucopolysaccharidosis I or ll.
Journal of Genetic Medicine.
20,
2
(2023)
Development and validation of a distress measurement for insulin injections among patients with diabetes.
SCIENTIFIC REPORTS.
13,
1
(2023)
Development and Validation of a Distress Measurement Related to Glucose Monitoring of Diabetes Patients.
DIABETES THERAPY.
14,
4
(2023)
Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantilehypophosphatasia in Korea Two case reports.
MEDICINE.
102,
6
(2022)
The longitudinal effect of oxcarbazepine on thyroid function in children and adolescents with epilepsy.
EPILEPSIA.
63,
12
(2022)
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.
ANNALS OF HUMAN GENETICS.
86,
6
(2022)
Endocrine and Metabolic Illnesses in Young Adults with Prader-Willi Syndrome.
JOURNAL OF PERSONALIZED MEDICINE.
12,
6
(2022)
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
JOURNAL OF PERSONALIZED MEDICINE.
12,
5
(2022)
The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
ANNALS OF CLINICAL AND LABORATORY SCIENCE.
52,
3
(2022)
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
ITALIAN JOURNAL OF PEDIATRICS.
48,
1
(2022)
Clinical practice guidelines for optimizing bone health in Korean children and adolescents.
Annals of Pediatric Endocrinology and Metabolism.
27,
1
(2022)
First Korean female child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
Annals of Pediatric Endocrinology & Metabolism.
1,
1
(2022)
Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndrome.
EPIDEMIOLOGY AND HEALTH.
44,
(2022)
Late-infantile GM1 gangliosidosis A case report.
MEDICINE.
101,
1
(2022)
Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.
ENDOCRINE JOURNAL.
69,
10
(2021)
Appropriate Age for Height Control Treatment in Patients With Marfan Syndrome.
FRONTIERS IN ENDOCRINOLOGY.
12,
(2021)
Impact of growth hormone treatment on scoliosis development and progression: analysis of 1128 patients with idiopathic short stature.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY METABOLISM.
34,
2
(2020)
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
ANNALS OF CLINICAL AND LABORATORY SCIENCE.
50,
6
(2020)
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
ANNALS OF CLINICAL AND LABORATORY SCIENCE.
50,
5
Publications
(2023)
신생아스크리닝.
다니엘123.
Co-author
Conference Paper
(5019)
메틸말론산혈증과 프로피온산혈증 환자에서 가정간호를 통한 수액 요법.
제69차 대한소아청소년과학회 추계학술대회 초록목차집.
KOREA, REPUBLIC OF
(2023)
Case studies on Dysostosis Multiplex.
2nd KORA SKELETAL DYSPLASIA SYMPOSIJM.
KOREA, REPUBLIC OF
(2023)
유전체분석을 활용한 임상 연구: 유전성 질환 사례.
2023 삼성서울병원 임상의를 위한 유전체 분석 소개.
KOREA, REPUBLIC OF
(2023)
Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease in Korea (OUTSPREAD study).
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
국내 가성부갑상선기능저하증 환자의 임상적 유전학적 특징 및 장기 예후.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
콩팥 이식 수술받은 소아환자에서 내분비 합병증 발생에 대한 장기간 추적 연구.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
한국 소아 저인상효소증 환자들의 임상적 특징과 7년 효소대체요법의 결과 보고.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
HRAS 돌연변이의 체세포 모자이크 현상(Somatic Mosaiclsm of HRAS Mutation)으로 인한 소아의 횡문근 육종 증례.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
국내 뮤코다당증 2형 환자의 임상적 분자유전학적 특징 및 장기 예후.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
한국 뮤코다당증 IVA(몰키오 A 증후군) 환자들의 임상적 특징과 효소대체요법의 장기적인 추적 결과.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
한국 뮤코다당증 환자에서의 척추신경질환.
제73차 대한소아청소년과학회 추계학술대회 초록집.
KOREA, REPUBLIC OF
(2023)
요소화로질환 핵심전문역량.
제23회 대한유전성대사질환학회 연수강좌.
KOREA, REPUBLIC OF
(2023)
Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.
제23회 대한유전성대사질환학회 정기학술대회.
KOREA, REPUBLIC OF