| 1 |
Giovanniello T , Leuzzi V , Carducci C , Carducci C , Sabato ML , Artiola C , Santagata S , Pozzessere S , Antonozzi I . Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. Neuropediatrics, 2007, 38: 213- 215.
doi: 10.1055/s-2007-991151
|
| 2 |
Chen Y , Bao X , Wen Y , Wang J , Zhang Q , Yan J . Clinical and genetic heterogeneity in a cohort of Chinese children with dopa- responsive dystonia. Front Pediatr, 2020, 8: 83.
doi: 10.3389/fped.2020.00083
|
| 3 |
Jeon BS . Dopa - responsive dystonia: a syndrome of selective nigrostriatal dopaminergic deficiency. J Korean Med Sci, 1997, 12: 269- 279.
doi: 10.3346/jkms.1997.12.4.269
|
| 4 |
Weissbach A , Pauly MG , Herzog R , Hahn L , Halmans S , Hamami F , Bolte C , Camargos S , Jeon B , Kurian MA , Opladen T , Brüggemann N , Huppertz HJ , König IR , Klein C , Lohmann K . Relationship of genotype, phenotype, and treatment in dopa - responsive dystonia: MDSGene review. Mov Disord, 2022, 37: 237- 252.
doi: 10.1002/mds.28874
|
| 5 |
Lee WW , Jeon BS . Clinical spectrum of dopa - responsive dystonia and related disorders. Curr Neurol Neurosci Rep, 2014, 14: 461.
doi: 10.1007/s11910-014-0461-9
|
| 6 |
Lee WW , Jeon B , Kim R . Expanding the spectrum of dopa - responsive dystonia (DRD) and proposal for new definition: DRD, DRD - plus, and DRD look - alike. J Korean Med Sci, 2018, 33: e184.
doi: 10.3346/jkms.2018.33.e184
|
| 7 |
Salles PA , Terán-Jimenez M , Vidal-Santoro A , Chaná-Cuevas P , Kauffman M , Espay AJ . Recognizing atypical dopa - responsive dystonia and its mimics. Neurol Clin Pract, 2021, 11: e876- e884.
|
| 8 |
Chi CS , Lee HF , Tsai CR . Tyrosine hydroxylase deficiency in Taiwanese infants. Pediatr Neurol, 2012, 46: 77- 82.
doi: 10.1016/j.pediatrneurol.2011.11.012
|
| 9 |
Dong HY , Feng JY , Yue XJ , Shan L , Jia FY . Dopa - responsive dystonia caused by tyrosine hydroxylase deficiency: three cases report and literature review. Medicine (Baltimore), 2020, 99: e21753.
doi: 10.1097/MD.0000000000021753
|
| 10 |
Li XY , Yang YM , Li LB , Zhang MY , Huang YY , Wang J , Wang L , Wan XH . Identification of TH variants in Chinese dopa - responsive dystonia patients and long - term outcomes. Front Neurol, 2021, 12: 644910.
doi: 10.3389/fneur.2021.644910
|
| 11 |
Szigetvari PD , Muruganandam G , Kallio JP , Hallin EI , Fossbakk A , Loris R , Kursula I , Møller LB , Knappskog PM , Kursula P , Haavik J . The quaternary structure of human tyrosine hydroxylase: effects of dystonia - associated missense variants on oligomeric state and enzyme activity. J Neurochem, 2019, 148: 291- 306.
doi: 10.1111/jnc.14624
|
| 12 |
Fan Z , Greenwood R , Felix AC , Shiloh-Malawsky Y , Tennison M , Roche M , Crooks K , Weck K , Wilhelmsen K , Berg J , Evans J . GCH1 heterozygous mutation identified by whole - exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia. J Neurol, 2014, 261: 622- 624.
doi: 10.1007/s00415-014-7265-3
|
| 13 |
Ravel JM , Michaud M , Frismand S , Puisieux S , Banneau G , Benoist JF , Lambert L , Bonnet C , Renaud M . Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia. Parkinsonism Relat Disord, 2023, 109: 105310.
doi: 10.1016/j.parkreldis.2023.105310
|
| 14 |
Tadic V , Kasten M , Brüggemann N , Stiller S , Hagenah J , Klein C . Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol, 2012, 69: 1558- 1562.
doi: 10.1001/archneurol.2012.574
|
| 15 |
Feng B , Sun G , Kong Q , Li Q . Compound heterozygous mutations in the TH gene in a Chinese family with autosomal - recessive dopa - responsive dystonia: a case report. Medicine (Baltimore), 2018, 97: e12870.
doi: 10.1097/MD.0000000000012870
|
| 16 |
Hu SX , Huang YR , Li P , Cai HQ , Li WJ , Peng GL . Clinical and genetic analysis of dopa - responsive dystonia caused by compound heterozygous mutation of TH gene in 4 infants. Lin Chuang Er Ke Za Zhi, 2021, 39: 191- 195.
URL
|
|
胡恕香, 黄燕茹, 李培, 蔡慧强, 李文洁, 彭桂兰. TH基因变异致婴儿多巴反应性肌张力障碍4例临床和基因分析. 临床儿科杂志, 2021, 39: 191- 195.
URL
|
| 17 |
Hou M , Yang C , Hu J , Guo Y , Liu P , Liu Y , Song J , Wei W , Chen Z . Levodopa is effective in the treatment of three Chinese Tyrosine hydroxylase (TH) deficiency children. Int J Dev Neurosci, 2019, 78: 28- 32.
doi: 10.1016/j.ijdevneu.2019.08.002
|
| 18 |
Dong W , Luo B , Qiu C , Jiang X , Qu X , Zhang L , Liu W , Yan J , Zhang W . Deep brain stimulation for the treatment of dopa - responsive dystonia: a case report and literature review. World Neurosurg, 2020, 136: 394- 398.
doi: 10.1016/j.wneu.2020.01.032
|
| 19 |
Chu JM , Wu L , Jiang LL , Wang YL , Chen WX , Chen L . A case of dopa - responsive dystonia due to a novel mutation in the TH gene. Zhongguo Shen Jing Jing Shen Ji Bing Za Zhi, 2023, 49: 422- 425.
URL
|
|
储建敏, 吴蕾, 江璐璐, 王永利, 陈蔚欣, 陈玲. 酪氨酸羟化酶基因新型突变所致多巴反应性肌张力障碍1例. 中国神经精神疾病杂志, 2023, 49: 422- 425.
URL
|
| 20 |
Pons R , Syrengelas D , Youroukos S , Orfanou I , Dinopoulos A , Cormand B , Ormazabal A , Garzía-Cazorla A , Serrano M , Artuch R . Levodopa - induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord, 2013, 28: 1058- 1063.
doi: 10.1002/mds.25382
|
| 21 |
Dai LF , Ding CH , Fang F , Zhang WH , Liu M , Tian XJ , Ren XT , Wang XH , Li JW , Zhuo XW , Zhang S , Lü JL , Wu HS . Clinical features and genetic characteristics of children with tyrosine hydroxylase deficiency caused by TH gene variants. Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi, 2021, 36: 574- 579.
|
|
代丽芳, 丁昌红, 方方, 张炜华, 刘明, 田小娟, 任晓暾, 王晓慧, 李久伟, 卓秀伟, 张珅, 吕俊兰, 吴沪生. TH基因变异致儿童酪氨酸羟化酶缺乏症的临床与遗传学分析. 中华实用儿科临床杂志, 2021, 36: 574- 579.
|