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
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
  • [21] Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
    Luz Couce, Maria
    Sanchez-Pintos, Paula
    Aldamiz-Echevarria, Luis
    Vitoria, Isidro
    Navas, Victor
    Martin-Hernandez, Elena
    Garcia-Volpe, Camila
    Pintos, Guillem
    Pena-Quintana, Luis
    Hernandez, Tomas
    Gil, David
    Sanchez-Valverde, Felix
    Bueno, Maria
    Roca, Iria
    Lopez-Ruzafa, Encarna
    Diaz-Fernandez, Carmen
    MEDICINE, 2019, 98 (39)
  • [22] HEPATOSPLENOMEGALY REVEALING TYROSINEMIA TYPE 1
    Bruel, A.
    Caldari, D.
    Le Francois, T.
    Allain-Launay, E.
    Dejode, J. M.
    Boyer, S.
    Vianey, C.
    Roze, J. C.
    Kuster, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S82 - S82
  • [23] Imaging features of type 1 hereditary tyrosinemia: A review of 30 patients
    Dubois, J
    Garel, L
    Patriquin, H
    Paradis, K
    Forget, S
    Filiatrault, D
    Grignon, A
    Russo, P
    StVil, D
    PEDIATRIC RADIOLOGY, 1996, 26 (12) : 845 - 851
  • [24] Comment on Pancreatitis in Type 1 Tyrosinemia
    Rahmoune, Hakim
    Boutrid, Nada
    Amrane, Mounira
    Bioud, Belkacem
    BALKAN MEDICAL JOURNAL, 2017, 34 (04) : 380 - 380
  • [25] Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
    van Ginkel, Willem G.
    Jahja, Rianne
    Huijbregts, Stephan C. J.
    Daly, Anne
    MacDonald, Anita
    De Laet, Corinne
    Cassiman, David
    Eyskens, Francois
    Korver-Keularts, Irene M. L. W.
    Goyens, Philippe J.
    McKiernan, Patrick J.
    van Spronsen, Francjan J.
    ORPHANET JOURNAL OF RARE DISEASES, 2016, 11
  • [26] Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy
    Gurbuz, Berrak Bilginer
    Aykan, H. Hakan
    Ciki, Kismet
    Karagoz, Tevfik
    Sivri, Serap
    Dursun, Ali
    Tokatli, Aysegul
    Coskun, Turgay
    CUKUROVA MEDICAL JOURNAL, 2021, 46 (04): : 1419 - 1425
  • [27] Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
    Willem G. van Ginkel
    Rianne Jahja
    Stephan C. J. Huijbregts
    Anne Daly
    Anita MacDonald
    Corinne De Laet
    David Cassiman
    François Eyskens
    Irene M. L. W. Körver-Keularts
    Philippe J. Goyens
    Patrick J. McKiernan
    Francjan J. van Spronsen
    Orphanet Journal of Rare Diseases, 11
  • [28] TYROSINEMIA TYPE 1: A CASE REPORT
    Rashad, Mahmoud
    Nasser, Carmen
    ARCHIVES OF DISEASE IN CHILDHOOD, 2019, 104 : A326 - A326
  • [29] Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1
    Elgilani, Faysal
    Mao, Shennen A.
    Glorioso, Jaime M.
    Yin, Meng
    Iankov, Ianko D.
    Singh, Anisha
    Amiot, Bruce
    Rinaldo, Piero
    Marler, Ronald J.
    Ehman, Richard L.
    Grompe, Markus
    Lillegard, Joseph B.
    Hickey, Raymond D.
    Nyberg, Scott L.
    AMERICAN JOURNAL OF PATHOLOGY, 2017, 187 (01): : 33 - 41
  • [30] Molecular characterization of a set of Portuguese patients with Friedreich ataxia.
    Miranda, C
    Barbot, C
    Pinto, M
    Moreira, MC
    Mendonca, P
    Poirier, J
    Ferreira, C
    Barros, J
    Cabral, P
    Ferro, J
    Silveira, I
    Pandolfo, M
    Coutinho, P
    Sequeiros, J
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A461 - A461