713 results on '"Niu, Dau-Ming"'
Search Results
202. R173W Mutation of Hydroxymethylbilane Synthetase Is Associated With Acute Intermittent Porphyria Complicated With Rhabdomyolysis
203. When is the best time to start enzyme replacement therapy in patients with cardiac-type Fabry disease? Experience from Taiwan, an area highly prevalent in this cardiac phenotype
204. Taiwanese patients with the Chinese IVS4+919G>A mutation who underwent endomyocardial biopsy: Data from the Fabry Outcome Survey (FOS)
205. Pathogenetic studies of 13 novel missense mutations in α-galactosidase A from the newborn screening in Taiwan
206. Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia
207. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.
208. Giant Congenital Melanocytic Nevi in Neonates: Report of Two Cases
209. 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)
210. Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)
211. Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan
212. High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
213. Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses
214. A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus
215. Age at first cardiac symptoms in Fabry disease: association with a Chinese hotspot Fabry mutation (IVS4+919G>A), classical mutations, and sex in a Taiwanese population from the Fabry Outcome Survey (FOS)
216. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
217. Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
218. A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment
219. Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)
220. Extreme Hypernatremia Combined With Rhabdomyolysis and Acute Renal Failure
221. Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)
222. Development of monocyte Toll-like receptor 2 and Toll-like receptor 4 in preterm newborns during the first few months of life
223. Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment
224. Cardiac improvement after enzyme replacement therapy in Fabry disease
225. Evaluation of plasma globotriaosylsphingosine (LysoGb3) in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G A)
226. Histone deacetylases inhibitors rescue the aberrant alternative splicing of cardiac variant type Fabry disease with IVS4+919G>A mutation
227. Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses
228. Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
229. Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
230. Homocystinuria in Taiwan: An inordinately high prevalence in an Austronesian aboriginal tribe, Tao
231. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
232. Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome
233. WITHDRAWN: Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
234. Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan
235. Idiopathic Calcinosis Cutis in a Child: Chemical Composition of the Calcified Deposits
236. Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan
237. Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome
238. Living donor liver transplantation using a graft from a donor with Dubin–Johnson syndrome
239. High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
240. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
241. Turner syndrome phalangeal screening based on a two‐stage linear regression concept
242. Clinical Features of Osteogenesis Imperfecta in Taiwan
243. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
244. Labour increases the surface expression of two toll-like receptors in the cord blood monocytes of healthy term newborns
245. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
246. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004
247. Lenticular Subluxation in a Patient with Homocystinuria Undetected by Neonatal Screening
248. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
249. Long-term Follow-up of Taiwanese Chinese Patients Treated Early for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
250. Comparison of hypothalamopituitary axis dysfunction of intrasellar and third ventricular craniopharyngiomas in children
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