-
1
-
-
0027193750
-
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions
-
Arvio M. Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta Paediatr 1993; 82: 469-471
-
(1993)
Acta Paediatr
, vol.82
, pp. 469-471
-
-
Arvio, M.1
-
2
-
-
0027253317
-
Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
-
Arvio M, Autio S, Louhiala P. Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. Acta Paediatr 1993; 82: 587-589
-
(1993)
Acta Paediatr
, vol.82
, pp. 587-589
-
-
Arvio, M.1
Autio, S.2
Louhiala, P.3
-
3
-
-
0017155478
-
Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples
-
Aula P, Raivio K, Autio S. Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples. Pediatr Res 1976; 10: 624-629
-
(1976)
Pediatr Res
, vol.10
, pp. 624-629
-
-
Aula, P.1
Raivio, K.2
Autio, S.3
-
4
-
-
0342903059
-
Salla disease
-
Durand P, O'Brien S (Eds.). Edi-Ermes, Milano
-
Aula P, Autio S, Raivio K, et al. Salla disease. In: Durand P, O'Brien S (Eds.): Genetic Errors of Glycoprotein Metabolism. Edi-Ermes, Milano, 1982; 185-190
-
(1982)
Genetic Errors of Glycoprotein Metabolism
, pp. 185-190
-
-
Aula, P.1
Autio, S.2
Raivio, K.3
-
5
-
-
0027985401
-
2- and proton density-weighted images and occurrence of incidental high-signal foci
-
2- and proton density-weighted images and occurrence of incidental high-signal foci. Neuroradiology 1994; 36: 644-648
-
(1994)
Neuroradiology
, vol.36
, pp. 644-648
-
-
Autti, T.1
Raininko, R.2
Vanhanen, S.-L.3
-
7
-
-
0030912028
-
Bone-marrow transplantation in aspartylglucosaminuria
-
Autti T, Santavuori P, Raininko R, et al. Bone-marrow transplantation in aspartylglucosaminuria. The Lancet 1997; 349: 1366-1367
-
(1997)
The Lancet
, vol.349
, pp. 1366-1367
-
-
Autti, T.1
Santavuori, P.2
Raininko, R.3
-
8
-
-
0030922924
-
Aspartylglucosaminuria: Radiologie course of the disease with histopathologic correlation
-
Autti T, Raininko R, Haltia M, et al. Aspartylglucosaminuria: radiologie course of the disease with histopathologic correlation. J Child Neurol 1997; 12: 369-375
-
(1997)
J Child Neurol
, vol.12
, pp. 369-375
-
-
Autti, T.1
Raininko, R.2
Haltia, M.3
-
9
-
-
0016812561
-
Aspartylglucosaminuria: A generalized storage disease. Morphological and histochemical studies
-
Haltia M, Palo J, Autio S. Aspartylglucosaminuria: A generalized storage disease. Morphological and histochemical studies. Acta Neuropath 1975; 31: 243-255
-
(1975)
Acta Neuropath
, vol.31
, pp. 243-255
-
-
Haltia, M.1
Palo, J.2
Autio, S.3
-
10
-
-
0029634283
-
Allogeneic bone marrow transplantation for lysosomal storage diseases
-
Hoogerbrugge MP, Brouwe OF, Bordigoni P, et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The Lancet 1995; 345: 1398-1402
-
(1995)
The Lancet
, vol.345
, pp. 1398-1402
-
-
Hoogerbrugge, M.P.1
Brouwe, O.F.2
Bordigoni, P.3
-
11
-
-
0027018402
-
Mutations causing aspartylglucosaminuria (AGU): A lysosomal accumulation disease
-
Ikonen E, Peltonen L. Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Hum Mutat 1992; 1: 361-365
-
(1992)
Hum Mutat
, vol.1
, pp. 361-365
-
-
Ikonen, E.1
Peltonen, L.2
-
12
-
-
0002905875
-
Large quantities of 2-acetamido-1(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings
-
Jenner F, Pollit R. Large quantities of 2-acetamido-1(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem J 1967; 103: 148
-
(1967)
Biochem J
, vol.103
, pp. 148
-
-
Jenner, F.1
Pollit, R.2
-
13
-
-
0008865907
-
Lysosomal storage diseases treated by bone marrow transplantation
-
Gale RP, Champlin R (Eds.). New York: Alan R Liss
-
Krivit W, Whitley CB, Chang P, et al. Lysosomal storage diseases treated by bone marrow transplantation. In: Gale RP, Champlin R (Eds.): Bone marrow transplantation: Current controversions. New York: Alan R Liss, 1989: 367-378
-
(1989)
Bone Marrow Transplantation: Current Controversions
, pp. 367-378
-
-
Krivit, W.1
Whitley, C.B.2
Chang, P.3
-
14
-
-
0032941197
-
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartyl glucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III
-
Krivit W, Peters C, Shapiro E. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartyl glucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 1999; 12: 167-176
-
(1999)
Curr Opin Neurol
, vol.12
, pp. 167-176
-
-
Krivit, W.1
Peters, C.2
Shapiro, E.3
-
16
-
-
0015274162
-
Aspartylglucosaminuria II: Biochemical studies on brain, liver, kidney and spleen
-
Palo J, Riekkinen P, Arstila A, et al. Aspartylglucosaminuria II: Biochemical studies on brain, liver, kidney and spleen. Acta Neuropath (Berl.) 1972; 20: 1198-1204
-
(1972)
Acta Neuropath (Berl.)
, vol.20
, pp. 1198-1204
-
-
Palo, J.1
Riekkinen, P.2
Arstila, A.3
-
17
-
-
0016152035
-
The glycoasparagines in urine of a patient with aspartylglucosaminuria
-
Pollitt R, Pretty K. The glycoasparagines in urine of a patient with aspartylglucosaminuria. Biochem J 1974; 141: 141-146
-
(1974)
Biochem J
, vol.141
, pp. 141-146
-
-
Pollitt, R.1
Pretty, K.2
-
18
-
-
0021741191
-
Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid-lipofuscinosis
-
Rapola J, Santavuori P, Savilahti E. Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid-lipofuscinosis. Human Pathol 1984; 15: 352-360
-
(1984)
Human Pathol
, vol.15
, pp. 352-360
-
-
Rapola, J.1
Santavuori, P.2
Savilahti, E.3
-
19
-
-
0026578477
-
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
-
Syvänen AC, Ikonen E, Manninen T, et al. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics 1992; 12: 590-595
-
(1992)
Genomics
, vol.12
, pp. 590-595
-
-
Syvänen, A.C.1
Ikonen, E.2
Manninen, T.3
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