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HURLER AND HUNTER SYNDROMES
被引:39
作者
:
DORFMAN, A
论文数:
0
引用数:
0
h-index:
0
DORFMAN, A
MATALON, R
论文数:
0
引用数:
0
h-index:
0
MATALON, R
机构
:
来源
:
AMERICAN JOURNAL OF MEDICINE
|
1969年
/ 47卷
/ 05期
关键词
:
D O I
:
10.1016/0002-9343(69)90164-8
中图分类号
:
R5 [内科学];
学科分类号
:
1002 ;
100201 ;
摘要
:
Since the demonstration that acid mucopolysaccharides accumulate in tissue and urines of patients with the Hurler and Hunter syndromes, other mucopolysaccharidoses have been described. Some lipid storage diseases have also been shown to have an increase in acid mucopolysaccharide with the lipid material stored. Tissue culture technics have shed some light on several aspects of these diseases especially with regard to genetic counselling. Available information is reviewed in an attempt to reconcile current knowledge in arriving at a unifying hypothesis. © 1969.
引用
收藏
页码:691 / &
相关论文
共 90 条
[61]
GLYCOLIPID AND MUCOPOLYSACCHARIDE ABNORMALITY IN FIBROBLASTS OF FABRYS DISEASE
MATALON, R
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
MATALON, R
DORFMAN, A
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
DORFMAN, A
DAWSON, G
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
DAWSON, G
SWEELEY, CC
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
SWEELEY, CC
[J].
SCIENCE,
1969,
164
(3887)
: 1522
-
&
[62]
MATALON R, 1969, BIOCHIM BIOPHYS ACTA, V171, P113
[63]
NOSOLOGY OF MUCOPOLYSACCHARIDOSES
MCKUSICK, VA
论文数:
0
引用数:
0
h-index:
0
MCKUSICK, VA
[J].
AMERICAN JOURNAL OF MEDICINE,
1969,
47
(05)
: 730
-
+
[64]
HURLERS SYNDROME
MEYER, K
论文数:
0
引用数:
0
h-index:
0
MEYER, K
HOFFMAN, P
论文数:
0
引用数:
0
h-index:
0
HOFFMAN, P
[J].
ARTHRITIS AND RHEUMATISM,
1961,
4
(05):
: 552
-
&
[65]
INCLUSIONS OF MUCOPOLYSACCHARIDE IN LYMPHOCYTES OF PATIENTS WITH GARGOYLISM
MITTWOCH, U
论文数:
0
引用数:
0
h-index:
0
MITTWOCH, U
[J].
NATURE,
1961,
191
(479)
: 1315
-
&
[66]
STRUCTURE AND METABOLISM OF MUCOPOLYSACCHARIDES (GLYCOSAMINOGLYCANS) AND PROBLEM OF MUCOPOLYSACCHARIDOSES
MUIR, H
论文数:
0
引用数:
0
h-index:
0
机构:
London, England
MUIR, H
[J].
AMERICAN JOURNAL OF MEDICINE,
1969,
47
(05)
: 673
-
&
[67]
RADIOAUTOGRAPHIC COMPARISON OF UPTAKE OF GALACTOSE-H3 AND GLUCOSE-H3 IN GOLGI REGION OF VARIOUS CELLS SECRETING GLYCOPROTEINS OR MUCOPOLYSACCHARIDES
NEUTRA, M
论文数:
0
引用数:
0
h-index:
0
NEUTRA, M
LEBLOND, CP
论文数:
0
引用数:
0
h-index:
0
LEBLOND, CP
[J].
JOURNAL OF CELL BIOLOGY,
1966,
30
(01)
: 137
-
&
[68]
ACID HYDROLASES IN SKIN AND PLASMA IN GARGOYLISM DEFICIENCY OF BETA-GALACTOSIDASE IN SKIN
OCKERMAN, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Clinical Chemistry, University of Lund
OCKERMAN, PA
[J].
CLINICA CHIMICA ACTA,
1968,
20
(01)
: 1
-
&
[69]
LYSOSOMAL ACID HYDROLASES IN LIVER IN GARGOYLISM DEFICIENCY OF 4-METHYLUMBELLIFERYL-BETA-GALACTOSIDASE
OCKERMAN, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Clinical Chemistry, University Hospital, Lund
OCKERMAN, PA
[J].
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION,
1968,
22
(02)
: 142
-
+
[70]
OCKERMAN PA, 1967, LANCET, V2, P293
←
1
2
3
4
5
6
7
8
9
→
共 90 条
[61]
GLYCOLIPID AND MUCOPOLYSACCHARIDE ABNORMALITY IN FIBROBLASTS OF FABRYS DISEASE
MATALON, R
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
MATALON, R
DORFMAN, A
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
DORFMAN, A
DAWSON, G
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
DAWSON, G
SWEELEY, CC
论文数:
0
引用数:
0
h-index:
0
机构:
Departments of Pediatrics and Biochemistry, Mental Retardation Center, University of Chicago, Chicago, IL
SWEELEY, CC
[J].
SCIENCE,
1969,
164
(3887)
: 1522
-
&
[62]
MATALON R, 1969, BIOCHIM BIOPHYS ACTA, V171, P113
[63]
NOSOLOGY OF MUCOPOLYSACCHARIDOSES
MCKUSICK, VA
论文数:
0
引用数:
0
h-index:
0
MCKUSICK, VA
[J].
AMERICAN JOURNAL OF MEDICINE,
1969,
47
(05)
: 730
-
+
[64]
HURLERS SYNDROME
MEYER, K
论文数:
0
引用数:
0
h-index:
0
MEYER, K
HOFFMAN, P
论文数:
0
引用数:
0
h-index:
0
HOFFMAN, P
[J].
ARTHRITIS AND RHEUMATISM,
1961,
4
(05):
: 552
-
&
[65]
INCLUSIONS OF MUCOPOLYSACCHARIDE IN LYMPHOCYTES OF PATIENTS WITH GARGOYLISM
MITTWOCH, U
论文数:
0
引用数:
0
h-index:
0
MITTWOCH, U
[J].
NATURE,
1961,
191
(479)
: 1315
-
&
[66]
STRUCTURE AND METABOLISM OF MUCOPOLYSACCHARIDES (GLYCOSAMINOGLYCANS) AND PROBLEM OF MUCOPOLYSACCHARIDOSES
MUIR, H
论文数:
0
引用数:
0
h-index:
0
机构:
London, England
MUIR, H
[J].
AMERICAN JOURNAL OF MEDICINE,
1969,
47
(05)
: 673
-
&
[67]
RADIOAUTOGRAPHIC COMPARISON OF UPTAKE OF GALACTOSE-H3 AND GLUCOSE-H3 IN GOLGI REGION OF VARIOUS CELLS SECRETING GLYCOPROTEINS OR MUCOPOLYSACCHARIDES
NEUTRA, M
论文数:
0
引用数:
0
h-index:
0
NEUTRA, M
LEBLOND, CP
论文数:
0
引用数:
0
h-index:
0
LEBLOND, CP
[J].
JOURNAL OF CELL BIOLOGY,
1966,
30
(01)
: 137
-
&
[68]
ACID HYDROLASES IN SKIN AND PLASMA IN GARGOYLISM DEFICIENCY OF BETA-GALACTOSIDASE IN SKIN
OCKERMAN, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Clinical Chemistry, University of Lund
OCKERMAN, PA
[J].
CLINICA CHIMICA ACTA,
1968,
20
(01)
: 1
-
&
[69]
LYSOSOMAL ACID HYDROLASES IN LIVER IN GARGOYLISM DEFICIENCY OF 4-METHYLUMBELLIFERYL-BETA-GALACTOSIDASE
OCKERMAN, PA
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Clinical Chemistry, University Hospital, Lund
OCKERMAN, PA
[J].
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION,
1968,
22
(02)
: 142
-
+
[70]
OCKERMAN PA, 1967, LANCET, V2, P293
←
1
2
3
4
5
6
7
8
9
→