AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY - A NOVEL MUTATION CLINICAL, BIOCHEMICAL FEATURES AND GENE THERAPY OUTCOMES

被引:0
|
作者
Kanungo, Shibani [1 ]
Hwu, Wuh-Liang [2 ]
机构
[1] Geisinger Hlth Syst, Dept Pediat Metab Genet, Danville, PA USA
[2] Natl Taiwan Univ Hosp, Dept Pediat & Med Genet, Taipei, Taiwan
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
58
引用
收藏
页码:263 / 264
页数:2
相关论文
共 50 条
  • [31] Using FDOPA PET and TRODAT-1 SPECT in selecting patients with aromatic L-amino acid decarboxylase(AADC) deficiency for gene therapy
    Tzen, Kai-Yuan
    Lee, Wang-Tso
    Hwu, Wuh-Liang
    Wu, Ruey-Meei
    JOURNAL OF NUCLEAR MEDICINE, 2009, 50
  • [32] A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic L-amino acid decarboxylase deficiency
    Dai, Lifang
    Ding, Changhong
    Fang, Fang
    BRAIN & DEVELOPMENT, 2019, 41 (02): : 205 - 209
  • [33] Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients
    Hwu, Wuh-Liang
    Muramatsu, Shin-ichi
    Tseng, Sheng-Hong
    Tzen, Kai-Yuan
    Lee, Ni-Chung
    Chien, Yin-Hsiu
    Snyder, Richard O.
    Byrne, Barry
    Tai, Chun-Hwei
    Wu, Ruey-Meei
    MOLECULAR THERAPY, 2013, 21 : S25 - S25
  • [34] Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
    Kojima, Karin
    Nakajima, Takeshi
    Taga, Naoyuki
    Miyauchi, Akihiko
    Kato, Mitsuhiro
    Matsumoto, Ayumi
    Ikeda, Takahiro
    Nakamura, Kazuyuki
    Kubota, Tetsuo
    Mizukami, Hiroaki
    Ono, Sayaka
    Onuki, Yoshiyuki
    Sato, Toshihiko
    Osaka, Hitoshi
    Muramatsu, Shin-ichi
    Yamagata, Takanori
    BRAIN, 2019, 142 : 322 - 333
  • [35] Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
    Tseng, Chih-Hsien
    Chien, Yin-Hsiu
    Lee, Ni-Chung
    Hsu, Yung-Chin
    Peng, Shinn-Forng
    Tseng, Wen-Yih I.
    Hwu, Wuh-Liang
    ANNALS OF NEUROLOGY, 2019, 85 (05) : 644 - 652
  • [36] FDA approves L-amino acid decarboxylase deficiency gene therapy
    Mullard, Asher
    NATURE REVIEWS DRUG DISCOVERY, 2025, 24 (01) : 6 - 6
  • [37] Eliciting Health State Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Vignette Study in France
    Smith, Adam B.
    Hanbury, Andria
    de Zarate, Igor Beitia Ortiz
    Hammes, Florence
    de Pouvourville, Gerard
    Buesch, Katharina
    PATIENT-RELATED OUTCOME MEASURES, 2021, 12 : 237 - 246
  • [38] Eliciting health state utilities for Aromatic L-amino Acid Decarboxylase (AADC) deficiency: a UK vignette study
    Smith, Adam B.
    Hanbury, Andria
    Buesch, Katharina
    JOURNAL OF PATIENT-REPORTED OUTCOMES, 2021, 5 (01)
  • [39] HEALTHCARE RESOURCE CONSUMPTION ASSOCIATED WITH AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (AADC-D) IN ITALY
    Fernandez-Cortes, F.
    Saberian, S.
    Patel, P.
    Rowan, P.
    Buesch, K.
    Beitia Ortiz, De Zarate, I
    VALUE IN HEALTH, 2022, 25 (01) : S99 - S100
  • [40] Eliciting health state utilities for Aromatic L-amino Acid Decarboxylase (AADC) deficiency: a UK vignette study
    Adam B. Smith
    Andria Hanbury
    Katharina Buesch
    Journal of Patient-Reported Outcomes, 5