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Results of search for 'su:"Aspartylglucosaminuria"', page 5 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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81.
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
[electronic resource]
by
Järvinen, O
Hietala, M
Aalto, A M
Arvio, M
Uutela, A
Aula, P
Kääriäinen, H
Producer:
20010222
In:
Clinical genetics
vol. 58
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82.
Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay.
[electronic resource]
by
Delahunty, C M
Ankener, W
Brainerd, S
Nickerson, D A
Mononen, I T
Producer:
19950209
In:
Clinical chemistry
vol. 41
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83.
Bone marrow transplantation in aspartylglucosaminuria--histopathological and MRI study.
[electronic resource]
by
Autti, T
Rapola, J
Santavuori, P
Raininko, R
Renlund, M
Liukkonen, E
Lauronen, L
Wirtavuori, K
Hietala, M
Saarinen-Pihkala, U
Producer:
20000316
In:
Neuropediatrics
vol. 30
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84.
Reduction in head size in patients with aspartylglucosaminuria.
[electronic resource]
by
Arvio, M
Arvio, P
Hurmerinta, K
Pirinen, S
Sillanpää, M
Producer:
20051223
In:
Acta neurologica Scandinavica
vol. 112
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85.
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.
[electronic resource]
by
Grön, K
Aula, P
Peltonen, L
Producer:
19900817
In:
Human genetics
vol. 85
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86.
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.
[electronic resource]
by
Arvio, P
Arvio, M
Kero, M
Pirinen, S
Lukinmaa, P L
Producer:
19990824
In:
Journal of medical genetics
vol. 36
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87.
Quantitative determination of rare mRNA species by PCR and solid-phase minisequencing.
[electronic resource]
by
Ikonen, E
Manninen, T
Peltonen, L
Syvänen, A C
Producer:
19930208
In:
PCR methods and applications
vol. 1
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88.
Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing.
[electronic resource]
by
Suomalainen, A
Syvänen, A C
Producer:
20001207
In:
Molecular biotechnology
vol. 15
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89.
Dissection of the molecular consequences of a double mutation causing a human lysosomal disease.
[electronic resource]
by
Riikonen, A
Ikonen, E
Sormunen, R
Lehto, V P
Peltonen, L
Jalanko, A
Producer:
19940606
In:
DNA and cell biology
vol. 13
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90.
Urinary oligosaccharides in lysosomal and other metabolic disorders.
[electronic resource]
by
Federico, A
Guazzi, G
Producer:
19820826
In:
Italian journal of neurological sciences
vol. 3
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91.
Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions.
[electronic resource]
by
Arvio, M
Producer:
19930726
In:
Acta paediatrica (Oslo, Norway : 1992)
vol. 82
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92.
Molecular background of the Finnish disease heritage.
[electronic resource]
by
Peltonen, L
Producer:
19980609
In:
Annals of medicine
vol. 29
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93.
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
[electronic resource]
by
Isoniemi, A
Hietala, M
Aula, P
Jalanko, A
Peltonen, L
Producer:
19950906
In:
Human mutation
vol. 5
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94.
Abnormal dermal proteoglycan in aspartylglycosaminuria: a possible mechanism for ultrastructural changes of collagen fibrils in a glycoprotein storage disorder.
[electronic resource]
by
Näntö-Salonen, K
Larjava, H
Säämanen, A M
Heino, J
Penttinen, R
Pelliniemi, L J
Tammi, M
Producer:
19880715
In:
Connective tissue research
vol. 16
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95.
Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis.
[electronic resource]
by
Sewell, A C
Producer:
19810116
In:
European journal of pediatrics
vol. 134
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96.
Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.
[electronic resource]
by
Park, H
Vettese, M B
Fensom, A H
Fisher, K J
Aronson, N N
Producer:
19930421
In:
The Biochemical journal
vol. 290 ( Pt 3)
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97.
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.
[electronic resource]
by
Banning, Antje
Gülec, Christina
Rouvinen, Juha
Gray, Steven J
Tikkanen, Ritva
Producer:
20180521
In:
Scientific reports
vol. 6
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98.
A mouse model for the human lysosomal disease aspartylglycosaminuria.
[electronic resource]
by
Kaartinen, V
Mononen, I
Voncken, J W
Noronkoski, T
Gonzalez-Gomez, I
Heisterkamp, N
Groffen, J
Producer:
19970107
In:
Nature medicine
vol. 2
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99.
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer.
[electronic resource]
by
Enomaa, N
Danos, O
Peltonen, L
Jalanko, A
Producer:
19951103
In:
Human gene therapy
vol. 6
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100.
Chronic arthritis in patients with aspartylglucosaminuria.
[electronic resource]
by
Arvio, M A
Rapola, J M
Pelkonen, P M
Producer:
19980824
In:
The Journal of rheumatology
vol. 25
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