Detalles de la búsqueda
1.
Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.
J Med Genet
; 57(2): 124-131, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31649052
2.
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
J Hum Genet
; 65(2): 79-89, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31776437
3.
Biochemical and molecular characterisation of neurological Wilson disease.
J Med Genet
; 55(9): 587-593, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29618506
4.
A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
BMC Med Genet
; 19(1): 35, 2018 03 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29506479
5.
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
J Hum Genet
; 63(3): 383-386, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29235540
6.
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
J Hum Genet
; 63(8): 911-917, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29773863
7.
Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.
J Neurooncol
; 138(1): 55-62, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29352447
8.
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
J Med Genet
; 54(11): 771-780, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28835480
9.
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
10.
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
BMC Pediatr
; 18(1): 103, 2018 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29519241
11.
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Mol Med
; 23: 149-154, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28467518
12.
Effects of Multidisciplinary Health Promotion Program Among Children in Community Childcare Center.
Clin Nutr Res
; 13(1): 8-21, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38362127
13.
Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure.
Pediatr Int
; 60(3): 302-304, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29575310
14.
Which obesity index is the most useful marker for predicting hepatic steatosis in children and adolescents with obesity? A cross-sectional study using quantitative magnetic resonance imaging.
Obes Res Clin Pract
; 17(4): 335-342, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37336708
15.
Additive Effects of Exercise or Nutrition Intervention in a 24-Month Multidisciplinary Treatment with a Booster Intervention for Children and Adolescents with Overweight or Obesity: The ICAAN Study.
Nutrients
; 14(2)2022 Jan 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35057568
16.
Vascular Alterations Preceding Arterial Wall Thickening in Overweight and Obese Children.
J Clin Med
; 11(12)2022 Jun 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35743590
17.
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Orphanet J Rare Dis
; 17(1): 24, 2022 01 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35093157
18.
Clinical and genetic features of four patients with Pearson syndrome: An observational study.
Medicine (Baltimore)
; 101(5): e28793, 2022 Feb 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35119049
19.
Clinical and genetic analyses of patients with lateralized overgrowth.
BMC Med Genomics
; 15(1): 206, 2022 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36175890
20.
Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.
Medicine (Baltimore)
; 101(28): e29424, 2022 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35838999