HUMAN BETA-MANNOSIDASE DEFICIENCY ASSOCIATED WITH PERIPHERAL NEUROPATHY

被引：38

作者：

LEVADE, T

GRABER, D

FLURIN, V

DELISLE, MB

PIERAGGI, MT

TESTUT, MF

CARRIERE, JP

SALVAYRE, R

机构：

[1] CHU RANGUEIL,SERV ANAT PATHOL,TOULOUSE,FRANCE

[2] CHU PURPAN,SERV EXPLORAT FONCT SYST NERVEUX,TOULOUSE,FRANCE

[3] CHU PURPAN,SERV NEUROPEDIAT,TOULOUSE,FRANCE

来源：

ANNALS OF NEUROLOGY | 1994年 / 35卷 / 01期

关键词：

D O I：

10.1002/ana.410350119

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Human beta-mannosidosis is an inherited lysosomal storage disorder described in only seven families. We present a further case in a black African 14-year-old boy with severely deficient beta-mannosidase activity, bilateral thenar and hypothenar amyotrophy, electrophysiologically demonstrable demyelinating peripheral neuropathy, and cytoplasmic vacuolation of skin fibroblasts and lymphoid cells. The clinical and biochemical features of our patient are compared to those of previously reported patients.

引用

页码：116 / 119

页数：4

共 50 条

[1] HUMAN BETA-MANNOSIDASE DEFICIENCY
COOPER, A
SARDHARWALLA, IB
ROBERTS, MM
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1986, 315 (19): : 1231 - 1231
[2] BOVINE BETA-MANNOSIDASE DEFICIENCY
BRYAN, L
SCHMUTZ, S
HODGES, SD
SNYDER, FF
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 173 (02) : 491 - 495
[3] Angiokeratoma corporis diffusum associated with beta-Mannosidase deficiency
RodriguezSerna, M
BotellaEstrada, R
Chabas, A
Coll, MJ
Oliver, V
Febrer, MI
Aliaga, A
[J]. ARCHIVES OF DERMATOLOGY, 1996, 132 (10) : 1219 - 1222
[4] HUMAN CHORIONIC BETA-MANNOSIDASE - COMPARISON WITH BETA-MANNOSIDASE FROM HUMAN CULTURED FIBROBLASTS
PETUSHKOVA, NA
IVLEVA, TS
VOZNIY, YM
[J]. PRENATAL DIAGNOSIS, 1992, 12 (10) : 835 - 839
[5] BETA-MANNOSIDASE DEFICIENCY IN ANGLO NUBIAN GOATS
HEALY, PJ
SEAMAN, JT
GARDNER, IA
SEWELL, CA
[J]. AUSTRALIAN VETERINARY JOURNAL, 1981, 57 (11) : 504 - 507
[6] CLONING AND CHARACTERIZATION OF HUMAN BETA-MANNOSIDASE
ALKHAYAT, AH
KRAEMER, SA
LEIPPRANDT, JR
JONES, MZ
FRIDERICI, K
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 788 - 788
[7] BETA-MANNOSIDASE DEFICIENCY IN A FEMALE INFANT WITH EPILEPTIC ENCEPHALOPATHY
COOPER, A
WRAITH, JE
SAVAGE, WJ
THORNLEY, M
NORONHA, MJ
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (01) : 18 - 22
[8] BETA-MANNOSIDASE OF HUMAN TROPHOBLAST AND SKIN FIBROBLASTS
PETUSHKOVA, NA
IVLEVA, TS
[J]. BULLETIN OF EXPERIMENTAL BIOLOGY AND MEDICINE, 1992, 113 (04) : 486 - 488
[9] BETA-MANNOSIDASE IN HUMAN-LEUKOCYTES AND FIBROBLASTS
PANDAY, RS
VANDIGGELEN, OP
KLEIJER, WJ
NIERMEIJER, MF
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1984, 7 (04) : 155 - 156
[10] HUMAN BETA-MANNOSIDASE DEFICIENCY - BIOCHEMICAL FINDINGS IN PLASMA, FIBROBLASTS, WHITE CELLS AND URINE
COOPER, A
HATTON, C
THORNLEY, M
SARDHARWALLA, IB
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1988, 11 (01) : 17 - 29

← 1 2 3 4 5 →