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Results of search for 'su:"Aspartylglucosaminuria"', page 1 of 6
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Authors
Arvio, M
Arvio, P
Aula, P
Autio, S
Autti, T
Borud, O
Enomaa, N
Grön, K
Guo, Hwai-Chen
Halila, R
Hietala, M
Ikonen, E
Jalanko, A
Kaartinen, V
Lukinmaa, P L
Mononen, I
Peltonen, L
Rapola, J
Syvänen, A C
Torp, K H
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Topics
Acetylglucosamine
Adolescent
Adult
Amidohydrolases
Aspartylglucosaminuria
Aspartylglucosylaminase
Child
Child, Preschool
Female
Humans
Intellectual Disability
Lysosomal Storage Diseases
Male
Mutation
analogs & derivatives
deficiency
enzymology
genetics
metabolism
urine
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1.
Letter: Leukocyte function in aspartylglucosaminuria.
[electronic resource]
by
Fleisher, T A
Isenberg, J N
Sharp, H L
Producer:
19760116
In:
The Journal of pediatrics
vol. 87
Online resources:
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2.
Aspartylglucosamine excretion in heterozygous carriers of aspartylglycosaminuria.
[electronic resource]
by
Mononen, T K
Producer:
19890818
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 180
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3.
[Skeletal changes in 2 German children with aspartylglycosaminuria].
[electronic resource]
by
Schmidt, H
Ziegler, R
Ullrich, K
von Lengerke, J H
Sewell, A C
Producer:
19881004
In:
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
vol. 149
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4.
Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuria.
[electronic resource]
by
Savolainen, H
Producer:
19760925
In:
The Biochemical journal
vol. 153
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5.
Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria.
[electronic resource]
by
Sui, Lufei
Lakshminarasimhan, Damodharan
Pande, Suchita
Guo, Hwai-Chen
Producer:
20150727
In:
Structure (London, England : 1993)
vol. 22
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6.
Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria.
[electronic resource]
by
Mononen, I
Kaartinen, V
Mononen, T
Producer:
19881031
In:
Journal of inherited metabolic disease
vol. 11
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7.
Sleep-related hypermotor seizures in aspartylglucosaminuria: a case report.
[electronic resource]
by
Ambrosetto, Giovanni
Santucci, Margherita
Producer:
20090814
In:
Epilepsia
vol. 50
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8.
Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples.
[electronic resource]
by
Aula, P
Raivio, K
Autio, S
Producer:
19760802
In:
Pediatric research
vol. 10
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9.
A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE.
[electronic resource]
by
Kiykim, E
Zubarioglu, T
Gorukmez, O
Gunes, S
Cansever, M S
Zeybek, A C Aktuglu
Producer:
20160303
In:
Genetic counseling (Geneva, Switzerland)
vol. 26
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10.
Characterization of two glycoasparagines isolated from the urine of patients with aspartylglycosylaminuria (AGU).
[electronic resource]
by
Sugahara, K
Funakoshi, S
Funakoshi, I
Aula, P
Yamashina, I
Producer:
19760423
In:
Journal of biochemistry
vol. 78
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11.
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria.
[electronic resource]
by
Harjunen, Elina Leena
Laine, Minna
Tikkanen, Ritva
Helenius, Päivi
Producer:
20210702
In:
Journal of inherited metabolic disease
vol. 43
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12.
High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.
[electronic resource]
by
Mononen, T
Mononen, I
Matilainen, R
Airaksinen, E
Producer:
19910912
In:
Human genetics
vol. 87
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13.
Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
[electronic resource]
by
Ikonen, E
Syvänen, A C
Peltonen, L
Producer:
19930805
In:
Scandinavian journal of clinical and laboratory investigation. Supplementum
vol. 213
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14.
Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy.
[electronic resource]
by
Kelo, Eira
Dunder, Ulla
Mononen, Ilkka
Producer:
20050516
In:
Glycobiology
vol. 15
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15.
[Contribution of ion exchange chromatography of amino acids to the diagnosis of aspartylglucosaminuria].
[electronic resource]
by
Candito, M
Parvy, P
Bardet, J
Rabier, D
Chambon, P
Mariani, R
Kamoun, P
Producer:
19951122
In:
Annales de biologie clinique
vol. 53
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16.
A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.
[electronic resource]
by
Coulter-Mackie, M B
Producer:
19990909
In:
Journal of inherited metabolic disease
vol. 22
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17.
[Aspartylglucosaminuria].
[electronic resource]
by
Yamaguchi, S
Producer:
19980925
In:
Ryoikibetsu shokogun shirizu
no. 19 Pt 2
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18.
[Disorders of glycoprotein degradation].
[electronic resource]
by
Yoshida, K
Yanagisawa, N
Producer:
19960312
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 53
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19.
Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients.
[electronic resource]
by
Arvio, M
Sauna-Aho, O
Peippo, M
Producer:
20010405
In:
The Journal of pediatrics
vol. 138
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20.
Aspartylglycosaminuria: a review.
[electronic resource]
by
Arvio, Maria
Mononen, Ilkka
Producer:
20171107
In:
Orphanet journal of rare diseases
vol. 11
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