Detalles de la búsqueda
1.
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
J Hum Genet
; 65(7): 619-625, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32246049
2.
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Genet Med
; 21(1): 224-232, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29875425
3.
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
J Hum Genet
; 63(1): 1-8, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29215092
4.
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery.
Cornea
; 43(4): 404-408, 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37506370
5.
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.
Blood Cells Mol Dis
; 49(2): 114-7, 2012 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22658170
6.
Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.
Mol Genet Metab
; 105(4): 590-5, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22353391
7.
R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.
J Clin Gastroenterol
; 49(3): 256-7, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25389600
8.
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
J Chin Med Assoc
; 80(4): 253-261, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28302372
9.
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Invest Ophthalmol Vis Sci
; 57(8): 3601-9, 2016 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27391550
10.
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
J Am Coll Cardiol
; 68(23): 2554-2563, 2016 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-27931613
11.
Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.
J Clin Lipidol
; 9(2): 234-40, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25911080
12.
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
Clin Nutr
; 34(6): 1155-8, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25516282
13.
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
Orphanet J Rare Dis
; 9: 111, 2014 Jul 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-25047006
14.
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.
Gene
; 509(1): 154-7, 2012 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22909800
15.
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
J Clin Endocrinol Metab
; 94(12): 5045-52, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19837936
Resultados
1 -
15
de 15
1
Próxima >
>>