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Development of orphan drugs for rare diseases

Clinical and experimental pediatrics, 2024-07, Vol.67 (7), p.315-327

Yoo, Han-Wook

2024

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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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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Journal of medical genetics, 2020-08, Vol.57 (8), p.542-551

2020

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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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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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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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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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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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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

Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.216-216, Article 216

2019

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Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases

Endocrine Journal, 2018, Vol.65(3), pp.307-315

2018

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Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

Annals of Pediatric Endocrinology & Metabolism, 2023, 28(2), , pp.77-86

2023

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Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review

Annals of pediatric endocrinology & metabolism, 2024-02, Vol.29 (1), p.60-66

2024

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Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea

Journal of human genetics, 2018-07, Vol.63 (8), p.911-917

2018

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Growth hormone therapy in patients with Noonan syndrome

Annals of Pediatric Endocrinology & Metabolism, 2018, 23(4), , pp.176-181

2018

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Clinical and genetic analyses of patients with lateralized overgrowth

BMC medical genomics, 2022-09, Vol.15 (1), p.1-206, Article 206

2022

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Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents

Annals of Pediatric Endocrinology & Metabolism, 2024, 29(2), , pp.109-118

2024

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Biochemical and molecular characterisation of neurological Wilson disease

Journal of medical genetics, 2018-09, Vol.55 (9), p.587-593

2018

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Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

BMC pediatrics, 2018-03, Vol.18 (1), p.103-103, Article 103

2018

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Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

Annals of Pediatric Endocrinology & Metabolism, 2022, 27(1), , pp.22-29

2022

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Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

BMC pediatrics, 2021-03, Vol.21 (1), p.108-108, Article 108

2021

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Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(2), , pp.105-111

2021

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Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Endocrine Connections, 2022-02, Vol.11 (2), p.1-9

2022

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First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia

JBMR plus, 2019-02, Vol.3 (2), p.e10074-e10074

2019

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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Annals of pediatric endocrinology & metabolism, 2024-02, Vol.29 (1), p.54-59

2024

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Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

Annals of Rehabilitation Medicine, 2019, 43(5), , pp.621-624

2019

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Development of orphan drugs for rare diseases

The definition of neuronopathic Gaucher disease

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

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

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

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

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

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

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

Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea

Growth hormone therapy in patients with Noonan syndrome

Clinical and genetic analyses of patients with lateralized overgrowth

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents

Biochemical and molecular characterisation of neurological Wilson disease

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

First-in-Asian Phase I Study of the Anti-Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X-linked Hypophosphatemia

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

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