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A CASE OF COMBINED FARBER AND SANDHOFF DISEASE
被引:23
作者
:
FUSCH, C
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
FUSCH, C
HUENGES, R
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
HUENGES, R
MOSER, HW
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
MOSER, HW
SEWELL, AC
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
SEWELL, AC
ROGGENDORF, W
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
ROGGENDORF, W
KUSTERMANNKUHN, B
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
KUSTERMANNKUHN, B
POULOS, A
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
POULOS, A
CAREY, WF
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
CAREY, WF
HARZER, K
论文数:
0
引用数:
0
h-index:
0
机构:
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
HARZER, K
机构
:
[1]
KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD 21205
[2]
ADELAIDE CHILDRENS HOSP,N ADELAIDE,SA 5006,AUSTRALIA
[3]
UNIV MAINZ,KINDERKLIN,D-6500 MAINZ,FED REP GER
[4]
UNIV TUBINGEN,INST HIRNFORSCH,D-7400 TUBINGEN 1,FED REP GER
来源
:
EUROPEAN JOURNAL OF PEDIATRICS
|
1989年
/ 148卷
/ 06期
关键词
:
D O I
:
10.1007/BF00441558
中图分类号
:
R72 [儿科学];
学科分类号
:
100202 ;
摘要
:
引用
收藏
页码:558 / 562
页数:5
相关论文
共 12 条
[1]
GANGLIOSIDE STORAGE, HEXOSAMINIDASE LABILITY, AND URINARY OLIGOSACCHARIDES IN ADULT SANDHOFFS DISEASE
BOLHUIS, PA
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
BOLHUIS, PA
OONK, JGW
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
OONK, JGW
KAMP, PE
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
KAMP, PE
RIS, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
RIS, AJ
MICHALSKI, JC
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
MICHALSKI, JC
OVERDIJK, B
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
OVERDIJK, B
REUSER, AJJ
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
REUSER, AJJ
[J].
NEUROLOGY,
1987,
37
(01)
: 75
-
81
[2]
A CASE OF LIPOGRANULOMATOSIS FARBER - SOME CLINICAL AND ULTRASTRUCTURAL ASPECTS
BURCK, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
BURCK, U
MOSER, HW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
MOSER, HW
GOEBEL, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
GOEBEL, HH
GRUTTNER, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
GRUTTNER, R
HELD, KR
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
HELD, KR
[J].
EUROPEAN JOURNAL OF PEDIATRICS,
1985,
143
(03)
: 203
-
208
[3]
DIAGNOSIS OF LIPOGRANULOMATOSIS (FARBER DISEASE) BY USE OF CULTURED FIBROBLASTS
DULANEY, JT
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
DULANEY, JT
MILUNSKY, A
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
MILUNSKY, A
SIDBURY, JB
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
SIDBURY, JB
HOBOLTH, N
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
HOBOLTH, N
MOSER, HW
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
MOSER, HW
[J].
JOURNAL OF PEDIATRICS,
1976,
89
(01)
: 59
-
61
[4]
GOEBEL HH, 1989, UNPUB PEDIATR RES
[5]
DIAGNOSIS OF METACHROMATIC LEUKODYSTROPHY, KRABBE DISEASE, AND FARBER DISEASE AFTER UPTAKE OF FATTY-ACID LABELED CEREBROSIDE SULFATE INTO CULTURED SKIN FIBROBLASTS
KUDOH, T
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
KUDOH, T
WENGER, DA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
WENGER, DA
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1982,
70
(01)
: 89
-
97
[6]
PRENATAL-DIAGNOSIS OF TAY-SACHS DISEASE - REFLECTOMETRY OF HEXOSAMINIDASE-A, HEXOSAMINIDASE-B, AND C/S BANDS ON ZYMOGRAMS
KUSTERMANNKUHN, B
论文数:
0
引用数:
0
h-index:
0
KUSTERMANNKUHN, B
HARZER, K
论文数:
0
引用数:
0
h-index:
0
HARZER, K
[J].
HUMAN GENETICS,
1983,
65
(02)
: 172
-
175
[7]
DIAGNOSIS OF INFANTILE AND JUVENILE FORMS OF GM2 GANGLIOSIDOSIS VARIANT-0 - RESIDUAL ACTIVITIES TOWARD NATURAL AND DIFFERENT SYNTHETIC SUBSTRATES
KYTZIA, HJ
论文数:
0
引用数:
0
h-index:
0
KYTZIA, HJ
HINRICHS, U
论文数:
0
引用数:
0
h-index:
0
HINRICHS, U
SANDHOFF, K
论文数:
0
引用数:
0
h-index:
0
SANDHOFF, K
[J].
HUMAN GENETICS,
1984,
67
(04)
: 414
-
418
[8]
MOSER HW, 1983, METABOLIC BASIS INHE, P820
[9]
FARBERS DISEASE IN 2 SIBLINGS, SURAL NERVE AND SUBCUTANEOUS BIOPSIES BY LIGHT AND ELECTRON-MICROSCOPY
PELLISSIER, JF
论文数:
0
引用数:
0
h-index:
0
机构:
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
PELLISSIER, JF
BERARDBADIER, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
BERARDBADIER, M
PINSARD, N
论文数:
0
引用数:
0
h-index:
0
机构:
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
PINSARD, N
[J].
ACTA NEUROPATHOLOGICA,
1986,
72
(02)
: 178
-
188
[10]
SPECIFIC ULTRASTRUCTURAL MARKER FOR DISSEMINATED LIPOGRANULOMATOSIS (FARBER)
SCHMOECKEL, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
SCHMOECKEL, C
HOHLFED, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
HOHLFED, M
[J].
ARCHIVES OF DERMATOLOGICAL RESEARCH,
1979,
266
(02)
: 187
-
196
←
1
2
→
共 12 条
[1]
GANGLIOSIDE STORAGE, HEXOSAMINIDASE LABILITY, AND URINARY OLIGOSACCHARIDES IN ADULT SANDHOFFS DISEASE
BOLHUIS, PA
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
BOLHUIS, PA
OONK, JGW
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
OONK, JGW
KAMP, PE
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
KAMP, PE
RIS, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
RIS, AJ
MICHALSKI, JC
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
MICHALSKI, JC
OVERDIJK, B
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
OVERDIJK, B
REUSER, AJJ
论文数:
0
引用数:
0
h-index:
0
机构:
ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS
REUSER, AJJ
[J].
NEUROLOGY,
1987,
37
(01)
: 75
-
81
[2]
A CASE OF LIPOGRANULOMATOSIS FARBER - SOME CLINICAL AND ULTRASTRUCTURAL ASPECTS
BURCK, U
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
BURCK, U
MOSER, HW
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
MOSER, HW
GOEBEL, HH
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
GOEBEL, HH
GRUTTNER, R
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
GRUTTNER, R
HELD, KR
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HAMBURG,INST HUMAN GENET,D-2000 HAMBURG 13,FED REP GER
HELD, KR
[J].
EUROPEAN JOURNAL OF PEDIATRICS,
1985,
143
(03)
: 203
-
208
[3]
DIAGNOSIS OF LIPOGRANULOMATOSIS (FARBER DISEASE) BY USE OF CULTURED FIBROBLASTS
DULANEY, JT
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
DULANEY, JT
MILUNSKY, A
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
MILUNSKY, A
SIDBURY, JB
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
SIDBURY, JB
HOBOLTH, N
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
HOBOLTH, N
MOSER, HW
论文数:
0
引用数:
0
h-index:
0
机构:
MASSACHUSETTS GEN HOSP WALTER E FERNALD STATE SCH, EUNICE KENNEDY SHRIVER CTR, WALTHAM, MA 02154 USA
MOSER, HW
[J].
JOURNAL OF PEDIATRICS,
1976,
89
(01)
: 59
-
61
[4]
GOEBEL HH, 1989, UNPUB PEDIATR RES
[5]
DIAGNOSIS OF METACHROMATIC LEUKODYSTROPHY, KRABBE DISEASE, AND FARBER DISEASE AFTER UPTAKE OF FATTY-ACID LABELED CEREBROSIDE SULFATE INTO CULTURED SKIN FIBROBLASTS
KUDOH, T
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
KUDOH, T
WENGER, DA
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT,DENVER,CO 80262
WENGER, DA
[J].
JOURNAL OF CLINICAL INVESTIGATION,
1982,
70
(01)
: 89
-
97
[6]
PRENATAL-DIAGNOSIS OF TAY-SACHS DISEASE - REFLECTOMETRY OF HEXOSAMINIDASE-A, HEXOSAMINIDASE-B, AND C/S BANDS ON ZYMOGRAMS
KUSTERMANNKUHN, B
论文数:
0
引用数:
0
h-index:
0
KUSTERMANNKUHN, B
HARZER, K
论文数:
0
引用数:
0
h-index:
0
HARZER, K
[J].
HUMAN GENETICS,
1983,
65
(02)
: 172
-
175
[7]
DIAGNOSIS OF INFANTILE AND JUVENILE FORMS OF GM2 GANGLIOSIDOSIS VARIANT-0 - RESIDUAL ACTIVITIES TOWARD NATURAL AND DIFFERENT SYNTHETIC SUBSTRATES
KYTZIA, HJ
论文数:
0
引用数:
0
h-index:
0
KYTZIA, HJ
HINRICHS, U
论文数:
0
引用数:
0
h-index:
0
HINRICHS, U
SANDHOFF, K
论文数:
0
引用数:
0
h-index:
0
SANDHOFF, K
[J].
HUMAN GENETICS,
1984,
67
(04)
: 414
-
418
[8]
MOSER HW, 1983, METABOLIC BASIS INHE, P820
[9]
FARBERS DISEASE IN 2 SIBLINGS, SURAL NERVE AND SUBCUTANEOUS BIOPSIES BY LIGHT AND ELECTRON-MICROSCOPY
PELLISSIER, JF
论文数:
0
引用数:
0
h-index:
0
机构:
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
PELLISSIER, JF
BERARDBADIER, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
BERARDBADIER, M
PINSARD, N
论文数:
0
引用数:
0
h-index:
0
机构:
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
CHU TIMONE,HOP ENFANTS,SERV NEUROL PEDIAT,F-13385 MARSEILLE 5,FRANCE
PINSARD, N
[J].
ACTA NEUROPATHOLOGICA,
1986,
72
(02)
: 178
-
188
[10]
SPECIFIC ULTRASTRUCTURAL MARKER FOR DISSEMINATED LIPOGRANULOMATOSIS (FARBER)
SCHMOECKEL, C
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
SCHMOECKEL, C
HOHLFED, M
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
UNIV MUNICH,KINDERKLIN,D-8000 MUNICH 2,FED REP GER
HOHLFED, M
[J].
ARCHIVES OF DERMATOLOGICAL RESEARCH,
1979,
266
(02)
: 187
-
196
←
1
2
→