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Young Bae Sohn

Ajou University Hospital(KR)

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140

Papers

1.7K

Citations

22

h-index

65

i10-index

Young Bae Sohn is an academic researcher from Ajou University Hospital. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Trypanosoma species research and implications & Genetic Syndromes and Imprinting. The author has an h-index of 22, co-authored 119 publications.

ORCID: 0000-0002-4664-1941

Research Topics

Lysosomal Storage Disorders Research Trypanosoma species research and implications Genetic Syndromes and Imprinting Glycogen Storage Diseases and Myoclonus Genomic variations and chromosomal abnormalities

Papers by this author

works

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

2019 · Orphanet Journal of Rare Diseases · 35 citations

https://doi.org/10.1186/s13023-019-1195-1

Aram Yang Jin‐Ho Choi Young Bae Sohn Yunae Eom

The efficacy of intracerebroventricular idursulfase‐beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology

2018 · Journal of Inherited Metabolic Disease · 22 citations

https://doi.org/10.1007/s10545-018-0221-0

Young Bae Sohn Ah‐Ra Ko Mi‐ran Seong So Yeon Lee

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

2017 · Orphanet Journal of Rare Diseases · 16 citations

https://doi.org/10.1186/s13023-016-0556-2

Mina Yang Sung Yun Cho Hyung‐Doo Park Rihwa Choi

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings

2017 · JAAD Case Reports · 13 citations

https://doi.org/10.1016/j.jdcr.2017.01.023

Ji Young Yang Young Bae Sohn Jin‐Sung Lee Ja‐Hyun Jang

Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis

2019 · European Journal of Medical Genetics · 13 citations

https://doi.org/10.1016/j.ejmg.2019.103681

Young Bae Sohn Jung Min Ko Jung Min Ko Ju Young Jang

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair

2022 · Molecular Genetics and Metabolism Reports · 12 citations

https://doi.org/10.1016/j.ymgmr.2022.100845

Nathan Grant Young Bae Sohn N. Matthew Ellinwood Ericka Okenfuss

Research topics

topics

Lysosomal Storage Disorders Research

Trypanosoma species research and implications

Genetic Syndromes and Imprinting

Glycogen Storage Diseases and Myoclonus

Genomic variations and chromosomal abnormalities

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