On the front of X-linked adrenoleukodystrophy

被引:8
作者
Aubourg, P [1 ]
机构
[1] Univ Paris 05, INSERM, U342, Hop St Vincent de Paul, F-75014 Paris, France
关键词
adrenoleukodystrophy; peroxisome; ABC transporters;
D O I
10.1023/A:1022583813171
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The profound and lasting involvement of Hugo and Arm Moser have allowed to make remarkable progress in adrenoleulodystrophy (ALD) during the last 20 years. Besides their own commitment in ALD, Hugo and Arm have constantly encouraged physicians, biologists and molecular geneticists to undertake clinical and fundamental research in this devastating disease. There is now some preventive and therapeutic approaches which can be proposed to ALD patients and families. The issues that still remain unresolved will certainly keep busy those who share the <<Hugo and Arm spirit>>.
引用
收藏
页码:515 / 520
页数:6
相关论文
共 50 条
[41]   Nutritional status of children affected by X-linked adrenoleukodystrophy [J].
Isabella, Moroni ;
Ramona, De Amicis ;
Anna, Ardissone ;
Simone, Ravella ;
Simona, Bertoli .
JOURNAL OF HUMAN NUTRITION AND DIETETICS, 2023, 36 (04) :1316-1326
[42]   Anaesthetic management of an adult patient with X-linked adrenoleukodystrophy [J].
Kindopp, AS ;
Ashbury, T .
CANADIAN JOURNAL OF ANAESTHESIA-JOURNAL CANADIEN D ANESTHESIE, 1998, 45 (10) :990-992
[43]   Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy [J].
Boehm, CD ;
Cutting, GR ;
Lachtermacher, MB ;
Moser, HW ;
Chong, SS .
MOLECULAR GENETICS AND METABOLISM, 1999, 66 (02) :128-136
[44]   Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future [J].
Moser, Ann B. ;
Seeger, Elisa ;
Raymond, Gerald V. .
INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2022, 8 (01)
[45]   A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes [J].
Fogel, Brent L. ;
Young, Pari ;
Thompson, Arthur R. ;
Perlman, Susan .
NEUROGENETICS, 2008, 9 (03) :215-218
[46]   Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy [J].
Musolino, Patricia Leonor ;
Rapalino, Otto ;
Caruso, Paul ;
Caviness, Verne Strudwick ;
Eichler, Florian Sebald .
BRAIN, 2012, 135 :2676-2683
[47]   A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes [J].
Brent L. Fogel ;
Pari Young ;
Arthur R. Thompson ;
Susan Perlman .
neurogenetics, 2008, 9 :215-218
[48]   X-linked adrenoleukodystrophy: first report of the Italian Study Group [J].
Di Biase, A ;
Salvati, S ;
Avellino, C ;
Cappa, M ;
Bertini, E ;
Moroni, I ;
Rimoldi, M ;
Uziel, G .
ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1998, 19 (05) :315-319
[49]   Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy [J].
Schmidt, S ;
Träber, F ;
Block, W ;
Keller, E ;
Pohl, C ;
von Oertzen, J ;
Schild, H ;
Schlegel, U ;
Klockgether, T .
JOURNAL OF NEUROLOGY, 2001, 248 (01) :36-44
[50]   X-linked adrenoleukodystrophy: first report of the Italian Study Group [J].
A. Di Biase ;
S. Salvati ;
C. Avellino ;
M. Cappa ;
E. Bertini ;
I. Moroni ;
M. Rimoldi ;
G. Uziel .
The Italian Journal of Neurological Sciences, 1998, 19 :315-319