Unraveling the Leukodystrophies: Clinical, Biochemical and Molecular Studies of Sixty Brazilian Patients with Genetic White Matter Disorders

被引:0
|
作者
Lourenco, Charles [1 ]
Simao, Gustavo [1 ]
Sobreira, Claudia [1 ]
Funayama, Carolina [1 ]
Giugliani, Roberto [2 ]
Marques, Wilson, Jr. [1 ]
机构
[1] Univ Sao Paulo, Sao Paulo, Brazil
[2] Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil
关键词
D O I
10.1016/j.ymgme.2011.11.108
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:S45 / S45
页数:1
相关论文
共 50 条
  • [31] Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome
    Willemsen, MAAP
    Ijlst, L
    Steijlen, PM
    Rotteveel, JJ
    de Jong, JGN
    van Domburg, PHMF
    Mayatepek, E
    Gabreëls, FJM
    Wanders, RJA
    BRAIN, 2001, 124 : 1426 - 1437
  • [32] Clinical and molecular genetic studies of a cohort of Italian patients with muscle channelopathies
    Portaro, S.
    Sweeney, M. G.
    Matthews, E.
    Sud, R.
    Musumeci, O.
    Rodolico, C.
    Vita, G.
    Toscano, A.
    Hanna, M.
    JOURNAL OF NEUROLOGY, 2011, 258 : 246 - 246
  • [33] Muscle channelopathies: Clinical and molecular genetic studies in a cohort of Italian patients
    Antonio, T. O. Toscano
    Mary, S. M. G. Sweeney
    Emma, M. E. Matthews
    Richa, S. R. Sud
    Olimpia, M. O. Musumeci
    Carmelo, R. C. Rodolico
    Giuseppe, V. G. Vita
    Mike, H. M. Hanna
    Simona, P. S. Portaro
    NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 726 - 726
  • [34] MOLECULAR-GENETIC STUDIES OF MUSCLE LACTATE-DEHYDROGENASE DEFICIENCY IN WHITE PATIENTS
    TSUJINO, S
    SHANSKE, S
    BROWNELL, AKW
    HALLER, RG
    DIMAURO, S
    ANNALS OF NEUROLOGY, 1994, 36 (04) : 661 - 665
  • [35] Clinical, biochemical, molecular and histological features of 65 Portuguese patients with genetically confirmed mitochondrial disorders
    Cruz, S.
    Taipa, R.
    Nogueira, C.
    Pereira, C.
    Almeida, L.
    Neiva, R.
    Geraldes, T.
    Melo Pires, M.
    Vilarinho, L.
    EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 920 - 920
  • [36] MYOTONIC-DYSTROPHY - GENETIC, CLINICAL, AND MOLECULAR ANALYSIS OF PATIENTS FROM 41 BRAZILIAN FAMILIES
    PASSOSBUENO, MR
    CERQUEIRA, A
    VAINZOF, M
    MARIE, SK
    ZATZ, M
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (01) : 14 - 18
  • [37] Clinical, biochemical, neurological and molecular studies of 11 patients with novel mutations of the PAH gene
    Mallolas, J
    Vilaseca, A
    Campistol, J
    Lambruschini, N
    Cambra, FJ
    Fusté, E
    Milà, M
    REVISTA DE NEUROLOGIA, 2000, 31 (10) : 907 - 910
  • [38] Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects
    Bukowska-Olech, Ewelina
    Sowinska-Seidler, Anna
    Larysz, Dawid
    Gawlinski, Pawel
    Koczyk, Grzegorz
    Popiel, Delfina
    Gurba-Bryskiewicz, Lidia
    Materna-Kiryluk, Anna
    Adamek, Zuzanna
    Szczepankiewicz, Aleksandra
    Dominiak, Pawel
    Glista, Filip
    Matuszewska, Karolina
    Jamsheer, Aleksander
    FRONTIERS IN MOLECULAR BIOSCIENCES, 2022, 9
  • [39] Clinical characteristics and genetic analysis of HPDL biallelic gene related neurodevelopmental disorders with progressive spasm and cerebral white matter abnormalities
    梅道启
    China Medical Abstracts(Internal Medicine), 2024, 41 (02) : 126 - 127
  • [40] SIENA-XL for the assessment of gray matter and white matter volume changes in clinical studies of patients with multiple sclerosis.
    Battaglini, M.
    Jenkinson, M.
    De Stefano, N.
    MULTIPLE SCLEROSIS JOURNAL, 2016, 22 : 841 - 841