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Items: 1 to 20 of 228


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

Kang E, Kim T, Oh A, Yum MS, Keum C, Yoo HW, Lee BH.

J Hum Genet. 2019 Aug 19. doi: 10.1038/s10038-019-0657-6. [Epub ahead of print]


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.

Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K.

Calcif Tissue Int. 2019 Sep;105(3):271-284. doi: 10.1007/s00223-019-00568-3. Epub 2019 Jun 4.


Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Cho JH, Choi JH, Heo SH, Kim GH, Yum MS, Lee BH, Yoo HW.

Metab Brain Dis. 2019 May 25. doi: 10.1007/s11011-019-00441-0. [Epub ahead of print]


Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients.

Kang HJ, Hong SA, Oh SH, Kim KM, Yoo HW, Kim GH, Yu E.

J Pathol Transl Med. 2019 Jul;53(4):253-260. doi: 10.4132/jptm.2019.05.03. Epub 2019 May 16.


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.

Cheong HI, Yoo HW, Adachi M, Tanaka H, Fujiwara I, Hasegawa Y, Harada D, Sugimoto M, Okada Y, Kato M, Shimazaki R, Ozono K, Seino Y.

JBMR Plus. 2018 Sep 14;3(2):e10074. doi: 10.1002/jbm4.10074. eCollection 2019 Feb.


Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy.

Kim WS, Kim HS, Shin J, Park JC, Yoo HW, Takenaka T, Tei C.

J Korean Med Sci. 2019 Feb 15;34(7):e63. doi: 10.3346/jkms.2019.34.e63. eCollection 2019 Feb 25.


Growth hormone therapy in patients with Noonan syndrome.

Seo GH, Yoo HW.

Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):176-181. doi: 10.6065/apem.2018.23.4.176. Epub 2018 Dec 31.


Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.

Hong J, Oh SH, Yoo HW, Nittono H, Kimura A, Kim KM.

J Korean Med Sci. 2018 Nov 22;33(51):e324. doi: 10.3346/jkms.2018.33.e324. eCollection 2018 Dec 17.


Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome.

Jo KJ, Kim YM, Yoon JY, Lee YJ, Han YM, Yoo HW, Kim HS, Cheon CK.

Korean J Pediatr. 2019 Jul;62(7):274-280. doi: 10.3345/kjp.2018.06842. Epub 2018 Dec 3.


Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

Choi JH, Cho JH, Kim JH, Yoo EG, Kim GH, Yoo HW.

Horm Res Paediatr. 2018;90(5):283-290. doi: 10.1159/000493468. Epub 2018 Nov 29.


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

Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH.

Exp Clin Endocrinol Diabetes. 2018 Sep 14. doi: 10.1055/a-0681-6608. [Epub ahead of print]


Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial.

Chung WY, Yoo HW, Hwang JS, Ko CW, Kim HS, Jin DK, Lee KH, Han HS, Paranchothy P, Suh BK.

Horm Res Paediatr. 2018;90(1):44-53. doi: 10.1159/000491016. Epub 2018 Aug 15.


Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study.

Hwang JS, Lee HS, Lee KH, Yoo HW, Lee DY, Suh BK, Ko CW, Chung WY, Jin DK, Shin CH, Han HS, Han S, Kim HS.

Horm Res Paediatr. 2018;90(1):54-63. doi: 10.1159/000489262. Epub 2018 Jun 20.


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

Kim D, Ko JM, Kim YM, Seo GH, Kim GH, Lee BH, Yoo HW.

J Hum Genet. 2018 Jul;63(8):911-917. doi: 10.1038/s10038-018-0467-2. Epub 2018 May 17.


Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.

Kim YM, Kim G, Ko H, Yoo HW, Lee HD.

Medicine (Baltimore). 2018 May;97(20):e10813. doi: 10.1097/MD.0000000000010813.


The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Seo GH, Kim YM, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW.

Medicine (Baltimore). 2018 May;97(20):e10767. doi: 10.1097/MD.0000000000010767.


Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Kim YM, Kang E, Choi JH, Kim GH, Yoo HW, Lee BH.

Medicine (Baltimore). 2018 Apr;97(14):e0309. doi: 10.1097/MD.0000000000010309.


Biochemical and molecular characterisation of neurological Wilson disease.

Seo GH, Kim YM, Oh SH, Chung SJ, Choi IH, Kim GH, Yum MS, Choi JH, Kim KM, Ko TS, Lee BH, Yoo HW.

J Med Genet. 2018 Sep;55(9):587-593. doi: 10.1136/jmedgenet-2017-105214. Epub 2018 Apr 4.


Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report.

Jung D, Seo GH, Kim YM, Choi JH, Yoo HW.

Ann Pediatr Endocrinol Metab. 2018 Mar;23(1):51-55. doi: 10.6065/apem.2018.23.1.51. Epub 2018 Mar 22.


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

Kang E, Kim YM, Kang M, Heo SH, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH.

BMC Pediatr. 2018 Mar 8;18(1):103. doi: 10.1186/s12887-018-1069-z.

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