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Results of search for 'su:"Aspartylglucosaminuria"', page 4 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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61.
Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.
[electronic resource]
by
Musumeci, S
Salvati, A
Schiliró, G
Salvo, G
Di Dio, R
Caprari, P
Producer:
19850205
In:
American journal of medical genetics
vol. 19
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62.
Aspartylglucosaminuria in the United States.
[electronic resource]
by
Hreidarsson, S
Thomas, G H
Valle, D L
Stevenson, R E
Taylor, H
McCarty, J
Coker, S B
Green, W R
Producer:
19831021
In:
Clinical genetics
vol. 23
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63.
Characteristic dental arches and occlusion in patients with aspartylglucosaminuria.
[electronic resource]
by
Arvio, P
Arvio, M
Pirinen, S
Producer:
19971208
In:
Journal of craniofacial genetics and developmental biology
vol. 17
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64.
Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders.
[electronic resource]
by
Aula, P
Rapola, J
Andersson, L C
Producer:
19751228
In:
Virchows Archiv. B, Cell pathology
vol. 18
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65.
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
[electronic resource]
by
Aula, P
Rapola, J
von Koskull, H
Ammälä, P
Producer:
19841228
In:
American journal of medical genetics
vol. 19
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66.
Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.
[electronic resource]
by
Borud, O
Strömme, J H
Lie, S O
Torp, K H
Producer:
19800124
In:
Journal of inherited metabolic disease
vol. 1
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67.
Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts.
[electronic resource]
by
Enomaa, N
Heiskanen, T
Halila, R
Sormunen, R
Seppälä, R
Vihinen, M
Peltonen, L
Producer:
19921019
In:
The Biochemical journal
vol. 286 ( Pt 2)
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68.
[Metabolic disorders of glycoproteins in congenital glycosidase deficiencies].
[electronic resource]
by
Yamashita, K
Producer:
19841019
In:
Seikagaku. The Journal of Japanese Biochemical Society
vol. 56
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69.
Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.
[electronic resource]
by
Yoshida, K
Ikeda, S
Yanagisawa, N
Yamauchi, T
Tsuji, S
Hirabayashi, Y
Producer:
19920206
In:
Clinical genetics
vol. 40
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70.
[A family with two children diagnosed with aspartylglucosaminuria-case report and literature review].
[electronic resource]
by
Liu, Yujie
Zou, Liping
Meng, Yan
Zhang, Ying
Shi, Xiuyu
Ju, Jun
Yang, Guang
Hu, Linyan
Chen, Xiaoqiao
Producer:
20150113
In:
Zhonghua er ke za zhi = Chinese journal of pediatrics
vol. 52
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71.
Terminal deletion of long arm of chromosome 4: patient report and literature review.
[electronic resource]
by
Evers, L J
Schrander-Stumpel, C T
Engelen, J J
Mulder, H
Borghgraef, M
Fryns, J P
Producer:
19930928
In:
Genetic counseling (Geneva, Switzerland)
vol. 4
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72.
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
[electronic resource]
by
Banning, Antje
Schiff, Manuel
Tikkanen, Ritva
Producer:
20180423
In:
Biochimica et biophysica acta. Molecular basis of disease
vol. 1864
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73.
Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
[electronic resource]
by
Gehler, J
Sewell, A C
Becker, C
Hartmann, J
Spranger, J
Producer:
19810922
In:
Helvetica paediatrica acta
vol. 36
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74.
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria.
[electronic resource]
by
Yoshida, K
Yanagisawa, N
Oshima, A
Sakuraba, H
Iida, Y
Suzuki, Y
Producer:
19921201
In:
Human genetics
vol. 90
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75.
Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.
[electronic resource]
by
Pande, Suchita
Bizilj, William
Guo, Hwai-Chen
Producer:
20190611
In:
FEBS letters
vol. 592
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76.
[Aspartylglucosaminuria. A hereditary disease with unusual high incidence among Finns in northern Norway].
[electronic resource]
by
Torp, K H
Borud, O
Producer:
19781027
In:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
vol. 98
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77.
Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse.
[electronic resource]
by
Peltola, M
Kyttälä, A
Heinonen, O
Rapola, J
Paunio, T
Revah, F
Peltonen, L
Jalanko, A
Producer:
19990225
In:
Gene therapy
vol. 5
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78.
Detection of aspartylglycosaminuria by gas--liquid chromatography.
[electronic resource]
by
Maury, C P
Producer:
19820225
In:
Clinical chemistry
vol. 27
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79.
Progressive nature of aspartylglucosaminuria.
[electronic resource]
by
Arvio, P
Arvio, M
Producer:
20021114
In:
Acta paediatrica (Oslo, Norway : 1992)
vol. 91
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80.
Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
[electronic resource]
by
Ikonen, E
Peltonen, L
Producer:
19930610
In:
Human mutation
vol. 1
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