Sun Hee Heo
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Explore the profile of Sun Hee Heo including associated specialties, affiliations and a list of published articles.
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24
Citations
195
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Recent Articles
1.
Hwang S, Bae H, Yoon J, Kim D, Do H, Heo S, et al.
Am J Hematol
. 2024 Apr;
99(7):1396-1399.
PMID: 38562044
High-dose ambroxol therapy combined with ERT in patients with neuropathic Gaucher disease.
2.
Jang G, Shin H, Do H, Kweon J, Hwang S, Kim S, et al.
Mol Ther Nucleic Acids
. 2023 Mar;
31:586-595.
PMID: 36910714
Lesch-Nyhan syndrome (LNS) is inherited as an X-linked recessive genetic disorder caused by mutations in hypoxanthine-guanine phosphoribosyl transferase 1 (). Patients with LNS show various clinical phenotypes, including hyperuricemia, gout,...
3.
Kim Y, Lee Y, Choi Y, Choi I, Heo S, Choi J, et al.
BMC Med Genomics
. 2022 Sep;
15(1):206.
PMID: 36175890
Background: The genetic features and treatment strategies of lateralized overgrowth have been elusive. We performed this study to analyze the genetic characteristics and treatment results of propranolol- or alpelisib-treated patients...
4.
Kim E, Do H, Jeong H, Kim T, Heo S, Kim Y, et al.
Clin Transl Med
. 2022 May;
12(5):e862.
PMID: 35593204
No abstract available.
5.
Ahn H, Seo G, Oh A, Lee Y, Keum C, Heo S, et al.
Medicine (Baltimore)
. 2020 Dec;
99(51):e23864.
PMID: 33371171
Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by a loss-of-function mutation in a maternally imprinted gene, MAGEL2, at 15q11.2q13. Due to its extreme rarity and wide range of...
6.
Ahn H, Seo G, Keum C, Heo S, Kim T, Choi J, et al.
Brain Dev
. 2020 Mar;
42(5):414-417.
PMID: 32113700
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is...
7.
Kim Y, Yum M, Heo S, Kim T, Jin H, Bae J, et al.
J Med Genet
. 2019 Oct;
57(2):124-131.
PMID: 31649052
Background: Ambroxol (ABX) has been suggested as an augmentative pharmacological agent for neuronopathic Gaucher disease (nGD). This study assessed the long-term safety and efficacy of combined therapy with high-dose ABX...
8.
Cho J, Choi J, Heo S, Kim G, Yum M, Lee B, et al.
Metab Brain Dis
. 2019 May;
34(5):1335-1340.
PMID: 31129767
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder caused by mutations in the HPRT1 gene. The clinical features and mutation spectrum of 26 Korean LNS patients from 23 unrelated families...
9.
Kang E, Kim Y, Heo S, Jung E, Kim K, Yoo H, et al.
Clin Chim Acta
. 2018 Apr;
482:199-202.
PMID: 29654786
Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1-15% of the cause of nonimmune hydrops...
10.
Lee B, Abdalla A, Choi J, Beshlawy A, Kim G, Heo S, et al.
Medicine (Baltimore)
. 2017 Nov;
96(45):e8492.
PMID: 29137040
Background: Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement. Methods: The efficacy and safety of a...