Tyrosinemia type 1 - Molecular characterization of 10 Portuguese patients

被引：0
|
作者：
Candeias, C.
Leao, E.
Lopes, A.
Quelhas, D.
Silva, E.
Martins, E.
Diogo, L.
Marques, J. S.
Eusebio, F.
Prata, M. F.
Vilarinho, L.
Cardoso, M. L.
机构：
[1] Inst Genet Med Jacinto Magalhaes, Oporto, Portugal
[2] HS Joco, Oporto, Portugal
[3] H Maria Pia, Oporto, Portugal
[4] Hosp Pediat Coimbra, Coimbra, Portugal
[5] Cenert Hosp VN Gaia, Coimbra, Portugal
[6] Hosp Santa Maria, Lisbon, Portugal
[7] Clin Genet Ctr, Oporto, Portugal
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2007年 / 30卷
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：
引用
收藏
页码：24 / 24
页数：1
相关论文
共 50 条
  • [31] Molecular characterization of maple syrup urine disease Portuguese patients
    Quental, S.
    Matos, R.
    Vilarinho, L.
    Martins, E.
    Leco, Teles E.
    Rodrigues, E.
    Diogo, L.
    Garcia, P.
    Eusebio, F.
    Gaspar, A.
    Sequeira, S.
    Furtado, F.
    Lanca, I
    Amorim, A.
    Prata, M. J.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 25 - 25
  • [32] Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients
    Karaca, Can A.
    Yilmaz, Cahit
    Farajov, Rasim
    Iakobadze, Zaza
    Aydogdu, Sema
    Kilic, Murat
    PEDIATRIC TRANSPLANTATION, 2019, 23 (06)
  • [33] Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients
    Ayse Cigdem Aktuglu Zeybek
    Ertugrul Kiykim
    Salim Neselioglu
    Halise Zeynep Iscan
    Tanyel Zubarioglu
    Mehmet Serif Cansever
    Ozcan Erel
    Pediatric Research, 2022, 92 : 474 - 479
  • [34] Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib
    Cavaco, Branca Maria
    Tomaz, Rute Alexandra
    Fonseca, Fernando
    Mascarenhas, Mario Rui
    Leite, Valeriano
    Goncalves Sobrinho, Luis
    ENDOCRINE, 2010, 37 (03) : 408 - 414
  • [35] Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients
    Zeybek, Ayse Cigdem Aktuglu
    Kiykim, Ertugrul
    Neselioglu, Salim
    Iscan, Halise Zeynep
    Zubarioglu, Tanyel
    Cansever, Mehmet Serif
    Erel, Ozcan
    PEDIATRIC RESEARCH, 2022, 92 (02) : 474 - 479
  • [36] REGRESSION OF LIVER NODULES IN TWO PATIENTS WITH TYROSINEMIA TYPE 1 IN TREATMENT WITH NTBC
    Bay, L.
    Eiroa, H. D.
    MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 31 - 32
  • [37] Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib
    Branca Maria Cavaco
    Rute Alexandra Tomaz
    Fernando Fonseca
    Mário Rui Mascarenhas
    Valeriano Leite
    Luís Gonçalves Sobrinho
    Endocrine, 2010, 37 : 408 - 414
  • [38] Type 1 tyrosinemia in Finland: a nationwide study
    Aarela, Linnea
    Hiltunen, Pauliina
    Soini, Tea
    Vuorela, Nina
    Huhtala, Heini
    Nevalainen, Pasi I.
    Heikinheimo, Markku
    Kivela, Laura
    Kurppa, Kalle
    ORPHANET JOURNAL OF RARE DISEASES, 2020, 15 (01)
  • [39] Lifesaving but Tiresome Treatment for Tyrosinemia Type 1
    Ryu, Moon
    Nguyen, Anthony
    Shekhar, Rahul
    Sheikh, Abu Baker
    AMERICAN JOURNAL OF GASTROENTEROLOGY, 2022, 117 (10): : S1979 - S1980
  • [40] The pathophysiology and treatment of hereditary tyrosinemia type 1
    Grompe, M
    SEMINARS IN LIVER DISEASE, 2001, 21 (04) : 563 - 571
12345