ADRENOLEUKODYSTROPHY - CLINICAL, PATHOLOGICAL AND BIOCHEMICAL FINDINGS IN 2 BROTHERS WITH THE ONSET OF CEREBRAL DISEASE IN ADULT LIFE

被引:19
作者
ESIRI, MM
HYMAN, NM
HORTON, WL
LINDENBAUM, RH
机构
[1] RADCLIFFE INFIRM,DEPT MED GENET,OXFORD OX2 6HE,ENGLAND
[2] DEPT NEUROL,READING,BERKS,ENGLAND
[3] DEPT PATHOL,READING,BERKS,ENGLAND
关键词
D O I
10.1111/j.1365-2990.1984.tb00392.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:429 / 445
页数:17
相关论文
共 19 条
[1]   CLOSE LINKAGE OF FRAGILE X MENTAL-RETARDATION SYNDROME TO HEMOPHILIA-B AND TRANSMISSION THROUGH A NORMAL-MALE [J].
CAMERINO, G ;
MATTEI, MG ;
MATTEI, JF ;
JAYE, M ;
MANDEL, JL .
NATURE, 1983, 306 (5944) :701-704
[2]   MORPHOLOGY AND DISTRIBUTION OF CYTOPLASMIC INCLUSIONS IN ADRENOLEUKODYSTROPHY [J].
GHATAK, NR ;
NOCHLIN, D ;
PERIS, M ;
MYER, EC .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1981, 50 (03) :391-398
[3]   ADRENOMYELONEUROPATHY - PROBABLE VARIANT OF ADRENOLEUKODYSTROPHY .1. CLINICAL AND ENDOCRINOLOGIC ASPECTS [J].
GRIFFIN, JW ;
GOREN, E ;
SCHAUMBURG, H ;
ENGEL, WK ;
LORIAUX, L .
NEUROLOGY, 1977, 27 (12) :1107-1113
[4]   FATTY-ACID ABNORMALITY IN ADRENOLEUKODYSTROPHY [J].
IGARASHI, M ;
SCHAUMBURG, HH ;
POWERS, J ;
KISHIMOTO, Y ;
KOLODNY, E ;
SUZUKI, K .
JOURNAL OF NEUROCHEMISTRY, 1976, 26 (04) :851-&
[5]   NEW PHENOTYPIC VARIANT OF ADRENOLEUKODYSTROPHY - PATHOLOGIC, ULTRASTRUCTURAL, AND BIOCHEMICAL-STUDY IN 2 BROTHERS [J].
MANZ, HJ ;
SCHUELEIN, M ;
MCCULLOUGH, DC ;
KISHIMOTO, Y ;
EIBEN, RM .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1980, 45 (2-3) :245-260
[6]  
MCKUSICK VA, 1983, MENDELIAN INHERITANC, P486
[7]   ADRENOLEUKODYSTROPHY - ACCUMULATION OF CHOLESTEROL ESTERS WITH VERY LONG-CHAIN FATTY-ACIDS [J].
MENKES, JH ;
CORBO, LM .
NEUROLOGY, 1977, 27 (10) :928-932
[8]   ADRENOLEUKODYSTROPHY - EVIDENCE FOR X LINKAGE, INACTIVATION, AND SELECTION FAVORING THE MUTANT ALLELE IN HETEROZYGOUS CELLS [J].
MIGEON, BR ;
MOSER, HW ;
MOSER, AB ;
AXELMAN, J ;
SILLENCE, D ;
NORUM, RA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08) :5066-5070
[9]   ADRENOLEUKODYSTROPHY - INCREASED PLASMA CONTENT OF SATURATED VERY LONG-CHAIN FATTY-ACIDS [J].
MOSER, HW ;
MOSER, AB ;
FRAYER, KK ;
CHEN, W ;
SCHULMAN, JD ;
ONEILL, BP ;
KISHIMOTO, Y .
NEUROLOGY, 1981, 31 (10) :1241-1249
[10]   ADRENOLEUKODYSTROPHY - ELEVATED C26 FATTY-ACID IN CULTURED SKIN FIBROBLASTS [J].
MOSER, HW ;
MOSER, AB ;
KAWAMURA, N ;
MURPHY, J ;
SUZUKI, K ;
SCHAUMBURG, H ;
KISHIMOTO, Y .
ANNALS OF NEUROLOGY, 1980, 7 (06) :542-549