GM2 gangliosidosis type B1: Case report

被引:0
|
作者
Szlago, Marina [1 ]
Schenone, Andrea B. [1 ]
Gagioli, Daniela [1 ]
Blanco, Mariana [1 ]
Benavente, Rodolfo [2 ]
机构
[1] Lab Neuroquim Dr Chamoles FESEN, Buenos Aires, DF, Argentina
[2] Univ Buenos Aires, Dept Pediat, Hosp Clin Josi San Martin, Buenos Aires, DF, Argentina
关键词
D O I
10.1016/j.ymgme.2008.11.139
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
138
引用
收藏
页码:S42 / S42
页数:1
相关论文
共 50 条
  • [1] Biochemical characterization of the GM2 gangliosidosis B1 variant
    Tutor, JC
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 2004, 37 (06) : 777 - 783
  • [2] GM2 gangliosidosis variant B1 Neuroradiological findings
    Salvatore Grosso
    Maria Angela Farnetani
    Rosario Berardi
    Maria Margollicci
    Paolo Galluzzi
    Rossella Vivarelli
    Guido Morgese
    Paolo Ballestri
    Journal of Neurology, 2003, 250 : 17 - 21
  • [3] GM2 gangliosidosis variant B1 - Neuroradiological findings
    Grosso, S
    Farnetani, MA
    Berardi, R
    Margollicci, M
    Galluzzi, P
    Vivarelli, R
    Morgese, G
    Balestri, P
    JOURNAL OF NEUROLOGY, 2003, 250 (01) : 17 - 21
  • [4] Neuroradiological findings in GM2 gangliosidosis variant B1
    Bano, Shahina
    Prasad, Akhila
    Yadav, Sachchida Nand
    Chaudhary, Vikas
    Garga, Umesh Chandra
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2011, 6 (02) : 110 - 113
  • [5] GM2 gangliosidosis B1 - Presenting as motoneurone disease with fasciculations
    Feistner, H
    Hauser, U
    Steup, A
    Feindt, T
    Heinze, HJ
    AKTUELLE NEUROLOGIE, 1997, 24 (05) : 214 - 215
  • [6] A CASE OF GM2 GANGLIOSIDOSIS
    FONTAINE, G
    MAILLARD, E
    FARRIAUX, JP
    STRECKER, G
    MONTREUI.J
    RESIBOIS, A
    TONDEUR, M
    JONNIAUX, G
    LOEB, H
    VANHOOF, F
    PRESSE MEDICALE, 1970, 78 (13): : 603 - &
  • [7] GM2 GANGLIOSIDOSIS B1 VARIANT - BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF HEXOSAMINIDASE-A
    PELEG, L
    MELTZER, F
    KARPATI, M
    GOLDMAN, B
    BIOCHEMICAL AND MOLECULAR MEDICINE, 1995, 54 (02) : 126 - 132
  • [8] A CASE OF JUVENILE GM2 GANGLIOSIDOSIS
    ROSSI, PG
    MELIDEO, G
    FERLINI, A
    SANTUCCI, M
    GOBBI, G
    NEUROPEDIATRICS, 1987, 18 (02) : 119 - 119
  • [9] A CASE OF THE B1 VARIANT OF GM2-GANGLIOSIDOSIS
    GRAY, RGF
    GREEN, A
    RABB, L
    BROADHEAD, DM
    BESLEY, GTN
    JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) : 280 - 282
  • [10] B1 VARIANT OF GM2 GANGLIOSIDOSIS IN A 12-YEAR-OLD PATIENT
    GOEBEL, HH
    STOLTE, G
    KUSTERMANNKUHN, B
    HARZER, K
    PEDIATRIC RESEARCH, 1989, 25 (01) : 89 - 93