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Results: 1-17 |
Results: 17
Molecular genetics of glycogen-storage disease type 1a in Chinese patientsof Taiwan
Authors: Wong, LJC Hwu, WL Dai, P Chen, TJ
Citation: Ljc. Wong et al., Molecular genetics of glycogen-storage disease type 1a in Chinese patientsof Taiwan, MOL GEN MET, 72(2), 2001, pp. 175-180
Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies
Authors: Wang, PJ Hwu, WL Shen, YZ
Citation: Pj. Wang et al., Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies, J CL NEURPH, 18(1), 2001, pp. 25-32
Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return
Authors: Wu, CH Hwu, WL Wang, JK Young, C Peng, SSF Kuo, MF
Citation: Ch. Wu et al., Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return, AM J MED G, 103(3), 2001, pp. 245-248
MRI in a case of adult-onset citrullinemia
Authors: Chen, YF Huang, YC Liu, HM Hwu, WL
Citation: Yf. Chen et al., MRI in a case of adult-onset citrullinemia, NEURORADIOL, 43(10), 2001, pp. 845-847
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency
Authors: Binzak, BA Wevers, RA Moolenaar, SH Lee, YM Hwu, WL Poggi-Bach, J Engelki, UFH Hoard, HM Vockley, JG Vockley, J
Citation: Ba. Binzak et al., Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency, AM J HU GEN, 68(4), 2001, pp. 839-847
Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
Authors: Chiang, SC Lee, YM Chang, MH Wang, TR Ko, TM Hwu, WL
Citation: Sc. Chiang et al., Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia, J HUM GENET, 45(4), 2000, pp. 197-199
Metabolic disorders mimicking Reye's syndrome
Authors: Chang, PF Huang, SF Hwu, WL Hou, JW Ni, YH Chang, MH
Citation: Pf. Chang et al., Metabolic disorders mimicking Reye's syndrome, J FORMOS ME, 99(4), 2000, pp. 295-299
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation
Authors: Hwu, WL Suzuki, Y Yang, X Li, X Chou, SP Narisawa, K Tsai, WY
Citation: Wl. Hwu et al., Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation, J FORMOS ME, 99(2), 2000, pp. 174-177
Dopa-responsive dystonia is induced by a dominant-negative mechanism
Authors: Hwu, WL Chiou, YW Lai, SY Lee, YM
Citation: Wl. Hwu et al., Dopa-responsive dystonia is induced by a dominant-negative mechanism, ANN NEUROL, 48(4), 2000, pp. 609-613
Identification and characterization of-3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S
Authors: Teng, YN Wang, TR Hwu, WL Lin, SP Lee-Chen, GJ
Citation: Yn. Teng et al., Identification and characterization of-3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S, CLIN GENET, 57(2), 2000, pp. 131-136
Molecular genetic study of pompe disease in Chinese patients in Taiwan (vol 13, pg 380, 1998)
Authors: Ko, TM Hwu, WL Lin, YW Tseng, LH Hwa, HL Wang, TR Chuang, SM
Citation: Tm. Ko et al., Molecular genetic study of pompe disease in Chinese patients in Taiwan (vol 13, pg 380, 1998), HUM MUTAT, 14(1), 1999, pp. 86-86
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
Authors: Ko, TM Hwu, WL Lin, YW Tseng, LH Hwa, HL Wang, TR Chuang, SM
Citation: Tm. Ko et al., Molecular genetic study of Pompe disease in Chinese patients in Taiwan, HUM MUTAT, 13(5), 1999, pp. 380-384
Neonatal type of nonketotic hyperglycinemia
Authors: Lu, FL Wang, PJ Hwu, WL Yau, KIT Wang, TR
Citation: Fl. Lu et al., Neonatal type of nonketotic hyperglycinemia, PED NEUROL, 20(4), 1999, pp. 295-300
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation
Authors: Hwu, WL Wang, PJ Hsiao, KJ Wang, TR Chiou, YW Lee, YM
Citation: Wl. Hwu et al., Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation, HUM GENET, 105(3), 1999, pp. 226-230
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
Authors: Hsu, YS Hwu, WL Huang, SF Lu, MY Chen, RL Lin, DT Peng, SSF Lin, KH
Citation: Ys. Hsu et al., Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation, BONE MAR TR, 24(1), 1999, pp. 103-107
Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations
Authors: Hwu, WL Chiang, SC Huang, SF Chang, MH Wen, WH Wang, TR
Citation: Wl. Hwu et al., Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations, J INH MET D, 22(8), 1999, pp. 937-938
Allele distribution at the FMR1 locus in the general Chinese population
Authors: Chiang, SC Lee, YM Wang, TR Hwu, WL
Citation: Sc. Chiang et al., Allele distribution at the FMR1 locus in the general Chinese population, CLIN GENET, 55(5), 1999, pp. 352-355
Risultati: 1-17 |