Sung Won Park

发表

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea

Y. Sohn, S. Kim, D. Kim, 2015, Journal of Korean medical science.

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia

C. Ki, Y. Sohn, S. Kim, 2011, Human Genetics.

Peritoneal Dialysis Associated Peritonitis and Empirical Antibiotics Therapy in Korean Children with Chronic Renal Failure

Y. Sohn, S. Kim, Joongbum Cho, 2008 .

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

C. Ki, Y. Sohn, H. Park, 2012, Annals of clinical and laboratory science.

Correlation of adiponectin receptor expression with cytokines and insulin sensitivity in growth hormone (GH)-treated children with Prader-Willi syndrome and in non-GH-treated obese children.

M. Y. Kim, Y. Sohn, S. Kim, 2010, The Journal of clinical endocrinology and metabolism.

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II

Y. Sohn, Jeehun Lee, D. Jin, 2015, Orphanet Journal of Rare Diseases.

Differential effects of insufflated, subcutaneous, and intravenous growth hormone on bone growth, cognitive function, and NMDA receptor subunit expression.

So Young Park, Y. Sohn, S. Kim, 2010, Endocrinology.

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

J. Y. Kim, S. Y. Kim, Sung Im Cho, 2015, European journal of medical genetics.

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Y. Sohn, S. Kim, Seng H. Cheng, 2016, Molecular genetics and metabolism.

Issues in Adults Prader-Willi Syndrome

Sung Won Park, 2015 .

A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome

Jong-Won Kim, Y. Sohn, J. Kwon, 2011, American journal of medical genetics. Part A.

Delayed Response of Amylin Levels after an Oral Glucose Challenge in Children with Prader-Willi Syndrome

Y. Sohn, S. Kim, Hae Jeong Lee, 2011, Yonsei medical journal.

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II

Y. Sohn, Myung-Whan Suh, D. Jin, 2012, American journal of medical genetics. Part A.

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty

Y. Sohn, D. Jin, Y. Jung, 2012, Korean journal of pediatrics.

Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence

C. Ki, Y. Sohn, M. Kwon, 2012, Journal of Korean medical science.

Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta

C. Ki, N. Matsumoto, Y. Sohn, 2015, Human mutation.

The metabolic syndrome and body composition in childhood cancer survivors

Soo Hyun Lee, H. Koo, K. Yoo, 2011, Korean journal of pediatrics.

Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

C. Ki, Y. Sohn, S. Kim, 2012, American journal of medical genetics. Part A.

Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency

S. Kim, Ji-Eun Lee, D. Jin, 2019, Scientific Reports.

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)

Y. Sohn, S. Kim, D. Jin, 2013, Orphanet Journal of Rare Diseases.

Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation

Y. Sohn, Jeehun Lee, D. Jin, 2012, American journal of medical genetics. Part A.

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

Y. Sohn, J. Kwon, D. Jin, 2011, American journal of medical genetics. Part A.

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

C. Ki, Y. Sohn, M. Kwon, 2012, International Journal of Pediatric Endocrinology.

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

Jong-Won Kim, Y. Sohn, D. Jin, 2012, Korean journal of pediatrics.

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Y. Sohn, H. Park, D. Jin, 2011, Annals of clinical and laboratory science.

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

H. Park, D. Jin, S. Cho, 2013, Annals of pediatric endocrinology & metabolism.

Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization

S. Chun, D. Jin, Sung Won Park, 2009, Molecular Diagnosis & Therapy.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis

C. Ki, Y. Sohn, H. Park, 2010, American journal of medical genetics. Part A.

Continuous renal replacement therapy in neonates weighing less than 3 kg

Y. Sohn, S. Kim, Y. Chang, 2012, Korean journal of pediatrics.

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.

Y. Sohn, S. Kim, Jinsup Kim, 2015, Molecular pharmaceutics.

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

Y. Sohn, Y. Yook, Su-jin Kim, 2012, Korean Journal of Pediatrics.

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA

C. Ki, Jong-Won Kim, Y. Sohn, 2013, American journal of medical genetics. Part A.

Fibroblast Growth Factor Receptor 3 (FGFR3) Signaling in Achondroplasia

Sung Won Park, 2016 .

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Y. Sohn, S. Kim, D. Jin, 2014, Journal of Korean medical science.

The Effect of Growth Hormone and the Factors Influencing Growth in Pediatric Chronic Peritoneal Dialysis Patients.

Y. Sohn, S. Kim, D. Jin, 2008 .

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases

Y. Sohn, I. Kang, D. Jin, 2012, American journal of medical genetics. Part A.

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Y. Sohn, S. Kim, H. Park, 2011, Annals of clinical and laboratory science.

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.

Jong-Won Kim, Y. Sohn, Soo-Youn Lee, 2010, Annals of clinical and laboratory science.

Serum cystatin C for estimation of residual renal function in children on peritoneal dialysis

Y. Sohn, S. Kim, D. Jin, 2011, Pediatric Nephrology.