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The definition of neuronopathic Gaucher disease

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1056-1059

2020

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A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease

American journal of hematology, 2024-07, Vol.99 (7), p.1396-1399

2024

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Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(3), , pp.149-157

Yoo, Han-Wook

2021

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Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease

Journal of neurosurgery, 2016-05, Vol.124 (5), p.1221-1227

2016

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Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease

Journal of proteome research, 2017-02, Vol.16 (2), p.862-871

2017

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High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Clinical genetics, 2017-12, Vol.92 (6), p.594-605

2017

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Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

JIMD reports, 2023-01, Vol.64 (1), p.27-34

2023

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Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Journal of medical genetics, 2020-02, Vol.57 (2), p.124

2020

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Clinical and molecular spectra of BRAF-associated RASopathy

Journal of human genetics, 2021-04, Vol.66 (4), p.389-399

2021

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Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types

Journal of human genetics, 2020-01, Vol.65 (2), p.79-89

2020

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Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective

지질·동맥경화학회지, 2021, 10(1), , pp.1-7

Yoo, Han-Wook

2021

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Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs

International journal of molecular sciences, 2022-11, Vol.23 (22), p.13861

2022

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Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.45-45, Article 45

2020

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Biochemical and molecular characteristics of citrin deficiency in Korean children

Journal of human genetics, 2017-02, Vol.62 (2), p.305-307

2017

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Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

JBMR plus, 2023-06, Vol.7 (6), p.e10744-n/a

2023

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Identification of extremely rare mitochondrial disorders by whole exome sequencing

Journal of human genetics, 2019-11, Vol.64 (11), p.1117-1125

2019

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Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

Journal of medical genetics, 2021-11, Vol.58 (11), p.767

2021

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Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14

Journal of human genetics, 2019-11, Vol.64 (11), p.1137-1140

2019

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KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

Molecular genetics & genomic medicine, 2023-04, Vol.11 (4), p.e2127-n/a

2023

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A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome

Journal of human genetics, 2020-06, Vol.65 (6), p.551-555

2020

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The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.318-318, Article 318

2020

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Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease

BMC pediatrics, 2021-01, Vol.21 (1), p.35-35, Article 35

2021

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Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

Journal of human genetics, 2016-11, Vol.61 (11), p.923-929

2016

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Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

Experimental and clinical endocrinology & diabetes, 2019-09, Vol.127 (8), p.538

2019

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The definition of neuronopathic Gaucher disease

A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period

Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Clinical and molecular spectra of BRAF-associated RASopathy

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types

Inborn Errors of Mitochondrial Fatty Acid Oxidation: Overview from a Clinical Perspective

Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Biochemical and molecular characteristics of citrin deficiency in Korean children

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

Identification of extremely rare mitochondrial disorders by whole exome sequencing

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism

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