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1.
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Blood
; 138(21): 2117-2128, 2021 11 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34115847
2.
Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.
Cerebellum
; 19(6): 907-910, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32734377
3.
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
J Inherit Metab Dis
; 41(6): 1235-1246, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29978271
4.
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
5.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Mol Genet Metab
; 117(4): 447-55, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26857995
6.
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
J Hum Genet
; 61(3): 235-9, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26538304
7.
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
J Korean Med Sci
; 31(8): 1307-18, 2016 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-27478344
8.
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Hum Mutat
; 36(2): 191-5, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25402547
9.
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Mol Genet Metab
; 114(2): 156-60, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25219292
10.
Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
Am J Med Genet A
; 167A(1): 86-94, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25339260
11.
Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.
Mol Pharm
; 12(10): 3759-65, 2015 Oct 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26370910
12.
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
J Korean Med Sci
; 30(2): 214-7, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25653495
13.
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
14.
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.
J Korean Med Sci
; 30(7): 911-6, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-26130954
15.
Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.
Mol Genet Metab
; 112(3): 218-23, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24836711
16.
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
J Hum Genet
; 59(6): 321-5, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24739679
17.
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Glycoconj J
; 31(4): 309-15, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24781369
18.
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
J Korean Med Sci
; 29(2): 254-60, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24550654
19.
Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI-LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT).
Mol Genet Metab Rep
; 38: 101041, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38234862
20.
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
J Hum Genet
; 58(3): 150-4, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23303386