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1.
Efficacy and Safety of Topical Corticosteroid Treatment under Occlusion for Severe Alopecia Areata in Children. A single-center retrospective analysis.
Clin Exp Dermatol
; 2024 Mar 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38501938
2.
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Mol Med
; 28(1): 38, 2022 03 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35346031
3.
Association of Early Pubertal Onset in Female Rats With Inhalation of Lavender Oil.
J Korean Med Sci
; 37(2): e9, 2022 Jan 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35014224
4.
Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency.
J Korean Med Sci
; 37(11): e90, 2022 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35315601
5.
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
J Pediatr Hematol Oncol
; 42(3): e188-e192, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30720677
6.
First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea.
J Korean Med Sci
; 35(39): e357, 2020 Oct 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33045774
7.
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1.
J Korean Med Sci
; 34(9): e54, 2019 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30863264
8.
Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases.
Endocr J
; 65(3): 307-315, 2018 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-29279457
9.
Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
BMC Med Genet
; 18(1): 55, 2017 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28506293
10.
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Clin Genet
; 92(6): 594-605, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28425089
11.
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
Mol Med
; 22: 147-155, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26933843
12.
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
J Hum Genet
; 60(7): 395-7, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25787344
13.
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
J Hum Genet
; 60(9): 501-7, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25994866
14.
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
Metab Brain Dis
; 30(1): 75-81, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24919650
15.
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
J Korean Med Sci
; 30(4): 378-84, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25829804
16.
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
J Hum Genet
; 59(5): 276-9, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24621582
17.
Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010-2011.
J Pediatr Endocrinol Metab
; 37(6): 553-558, 2024 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-38754024
18.
Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010-2011).
Ann Pediatr Endocrinol Metab
; 29(1): 29-37, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38461803
19.
Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy.
Proteomics
; 13(7): 1211-9, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23436750
20.
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
Mol Genet Metab
; 108(1): 18-24, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23246278