Young B. Sohn

Suwon, Republic of Korea

Last Updated: 09/26/2026

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Found 77 publications

Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.

Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures.

Journal: JCEM case reports

Published: April 18, 2026

Myoclonus-Dystonia Associated with Heterozygous CAPN3 Splice-Site Variant.

Myoclonus-Dystonia Associated with Heterozygous CAPN3 Splice-Site Variant.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 25, 2026

Everolimus initiated in the neonatal period for refractory seizures associated with tuberous sclerosis complex: long-term clinical outcome.

Everolimus initiated in the neonatal period for refractory seizures associated with tuberous sclerosis complex: long-term clinical outcome.

Journal: Epilepsy & behavior reports

Published: January 30, 2026

Unilateral Oculomotor Apraxia and Pseudodystonia in Joubert Syndrome Associated With Novel CPLANE1 Variant.

Unilateral Oculomotor Apraxia and Pseudodystonia in Joubert Syndrome Associated With Novel CPLANE1 Variant.

Journal: Movement disorders clinical practice

Published: November 10, 2025

Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report.

Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report.

Journal: Frontiers in genetics

Published: August 29, 2025

Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort.

Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 22, 2024

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).

Journal: Molecular genetics and metabolism reports

Published: September 25, 2024

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Journal: Frontiers in pediatrics

Published: August 29, 2024

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Journal: Human mutation

Published: August 26, 2024

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).

Journal: Molecular genetics and metabolism reports

Published: December 12, 2023

Updates on Obesity in Prader-Willi Syndrome: From Genetics to Management.

Updates on Obesity in Prader-Willi Syndrome: From Genetics to Management.

Journal: Ewha medical journal

Published: November 06, 2023

Updates on Paget's Disease of Bone.

Updates on Paget's Disease of Bone.

Journal: Endocrinology and metabolism (Seoul, Korea)

Published: August 29, 2022

Showing 1-12 of 77

Last Updated: 09/26/2026