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EXTRA HEATING OF TLC PLATES DETECTS 2 LYSOSOMAL STORAGE DISEASES, ASPARTYLGLUCOSAMINURIA AND FUCOSIDOSIS, DURING ROUTINE URINARY AMINO-ACID SCREENING
被引:6
作者
:
SIMELL, O
论文数:
0
引用数:
0
h-index:
0
SIMELL, O
SIPILA, I
论文数:
0
引用数:
0
h-index:
0
SIPILA, I
AUTIO, S
论文数:
0
引用数:
0
h-index:
0
AUTIO, S
机构
:
来源
:
CLINICA CHIMICA ACTA
|
1983年
/ 133卷
/ 02期
关键词
:
D O I
:
10.1016/0009-8981(83)90409-6
中图分类号
:
R446 [实验室诊断];
R-33 [实验医学、医学实验];
学科分类号
:
1001 ;
摘要
:
引用
收藏
页码:227 / 232
页数:6
相关论文
共 15 条
[1]
I-CELL DISEASE PHENOTYPE INVITRO - EXPERIMENTS WITH CELL-FUSION AND CO-CULTIVATION
AULA, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
AULA, P
VIRTANEN, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
VIRTANEN, I
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1981,
4
(03)
: 153
-
154
[2]
Autio S, 1972, J Ment Defic Res, V1, P1
[3]
Borud O, 1978, Monogr Hum Genet, V10, P23
[4]
OLIGOSACCHARIDES IN URINE OF PATIENTS WITH GLYCOPROTEIN STORAGE DISEASES .1. RAPID DETECTION BY THIN-LAYER CHROMATOGRAPHY
HUMBEL, R
论文数:
0
引用数:
0
h-index:
0
机构:
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
HUMBEL, R
COLLART, M
论文数:
0
引用数:
0
h-index:
0
机构:
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
COLLART, M
[J].
CLINICA CHIMICA ACTA,
1975,
60
(02)
: 143
-
145
[5]
ASPARTYLGLUCOSAMINURIA - PSYCHOMOTOR RETARDATION MASQUERADING AS A MUCOPOLYSACCHARIDOSIS
ISENBERG, JN
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
ISENBERG, JN
SHARP, HL
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
SHARP, HL
[J].
JOURNAL OF PEDIATRICS,
1975,
86
(05)
: 713
-
717
[6]
PHILIPPART M, 1979, BIRTH DEFECTS COMPEN, P450
[7]
POLLITT RJ, 1968, LANCET, V2, P253
[8]
ENZYMATIC CLEAVAGE OF 2-ACETAMIDO-I-(BETA'-L-ASPARTAMIDO)-I,2-DIDEOXY-BETA-D-GLUCOSE BY HUMAN PLASMA AND SEMINAL FLUID . FAILURE TO DETECT HETEROZYGOUS STATE FOR ASPARTYLGLYCOSAMINURIA
POLLITT, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Medical Research Council Unit for Metabolic Studies in Psychiatry, University Department of Psychiatry, Middlewood Hospital
POLLITT, RJ
JENNER, FA
论文数:
0
引用数:
0
h-index:
0
机构:
Medical Research Council Unit for Metabolic Studies in Psychiatry, University Department of Psychiatry, Middlewood Hospital
JENNER, FA
[J].
CLINICA CHIMICA ACTA,
1969,
25
(03)
: 413
-
&
[9]
RASMUSSEN H, 1978, METABOLIC BASIS INHE, P1340
[10]
SALLA DISEASE - A NEW LYSOSOMAL STORAGE DISORDER WITH DISTURBED SIALIC-ACID METABOLISM
RENLUND, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
RENLUND, M
AULA, P
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
AULA, P
RAIVIO, KO
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
RAIVIO, KO
AUTIO, S
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
AUTIO, S
SAINIO, K
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
SAINIO, K
RAPOLA, J
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
RAPOLA, J
KOSKELA, SL
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
KOSKELA, SL
[J].
NEUROLOGY,
1983,
33
(01)
: 57
-
66
←
1
2
→
共 15 条
[1]
I-CELL DISEASE PHENOTYPE INVITRO - EXPERIMENTS WITH CELL-FUSION AND CO-CULTIVATION
AULA, P
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
AULA, P
VIRTANEN, I
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
UNIV HELSINKI,DEPT PATHOL,SF-00170 HELSINKI 17,FINLAND
VIRTANEN, I
[J].
JOURNAL OF INHERITED METABOLIC DISEASE,
1981,
4
(03)
: 153
-
154
[2]
Autio S, 1972, J Ment Defic Res, V1, P1
[3]
Borud O, 1978, Monogr Hum Genet, V10, P23
[4]
OLIGOSACCHARIDES IN URINE OF PATIENTS WITH GLYCOPROTEIN STORAGE DISEASES .1. RAPID DETECTION BY THIN-LAYER CHROMATOGRAPHY
HUMBEL, R
论文数:
0
引用数:
0
h-index:
0
机构:
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
HUMBEL, R
COLLART, M
论文数:
0
引用数:
0
h-index:
0
机构:
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
STATE PEDIAT CLIN,LUXEMBOURG,BELGIUM
COLLART, M
[J].
CLINICA CHIMICA ACTA,
1975,
60
(02)
: 143
-
145
[5]
ASPARTYLGLUCOSAMINURIA - PSYCHOMOTOR RETARDATION MASQUERADING AS A MUCOPOLYSACCHARIDOSIS
ISENBERG, JN
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
ISENBERG, JN
SHARP, HL
论文数:
0
引用数:
0
h-index:
0
机构:
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
UNIV MINNESOTA, DEPT PEDIAT, GASTROENTEROL SECT, MINNEAPOLIS, MN USA
SHARP, HL
[J].
JOURNAL OF PEDIATRICS,
1975,
86
(05)
: 713
-
717
[6]
PHILIPPART M, 1979, BIRTH DEFECTS COMPEN, P450
[7]
POLLITT RJ, 1968, LANCET, V2, P253
[8]
ENZYMATIC CLEAVAGE OF 2-ACETAMIDO-I-(BETA'-L-ASPARTAMIDO)-I,2-DIDEOXY-BETA-D-GLUCOSE BY HUMAN PLASMA AND SEMINAL FLUID . FAILURE TO DETECT HETEROZYGOUS STATE FOR ASPARTYLGLYCOSAMINURIA
POLLITT, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Medical Research Council Unit for Metabolic Studies in Psychiatry, University Department of Psychiatry, Middlewood Hospital
POLLITT, RJ
JENNER, FA
论文数:
0
引用数:
0
h-index:
0
机构:
Medical Research Council Unit for Metabolic Studies in Psychiatry, University Department of Psychiatry, Middlewood Hospital
JENNER, FA
[J].
CLINICA CHIMICA ACTA,
1969,
25
(03)
: 413
-
&
[9]
RASMUSSEN H, 1978, METABOLIC BASIS INHE, P1340
[10]
SALLA DISEASE - A NEW LYSOSOMAL STORAGE DISORDER WITH DISTURBED SIALIC-ACID METABOLISM
RENLUND, M
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
RENLUND, M
AULA, P
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
AULA, P
RAIVIO, KO
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
RAIVIO, KO
AUTIO, S
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
AUTIO, S
SAINIO, K
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
SAINIO, K
RAPOLA, J
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
RAPOLA, J
KOSKELA, SL
论文数:
0
引用数:
0
h-index:
0
机构:
CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
KOSKELA, SL
[J].
NEUROLOGY,
1983,
33
(01)
: 57
-
66
←
1
2
→