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Results of search for 'su:"Aspartylglucosaminuria"', page 3 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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41.
Lysosomal storage diseases in adults.
[electronic resource]
by
Rapola, J
Producer:
19950222
In:
Pathology, research and practice
vol. 190
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42.
N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria.
[electronic resource]
by
Maury, C P
Palo, J
Producer:
19810317
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 108
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43.
Laboratory detection of aspartylglycosaminuria.
[electronic resource]
by
Mononen, I
Kaartinen, V
Mononen, T
Producer:
19890613
In:
Scandinavian journal of clinical and laboratory investigation. Supplementum
vol. 191
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44.
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening.
[electronic resource]
by
Simell, O
Sipilä, I
Autio, S
Producer:
19831220
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 133
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45.
The T99K variant of glycosylasparaginase shows a new structural mechanism of the genetic disease aspartylglucosaminuria.
[electronic resource]
by
Pande, Suchita
Guo, Hwai-Chen
Producer:
20200410
In:
Protein science : a publication of the Protein Society
vol. 28
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46.
[Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria].
[electronic resource]
by
Yoshida, K
Producer:
19931122
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 51
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47.
Blood dolichol in lysosomal diseases.
[electronic resource]
by
Jokelainen, K
Salmela, K S
Humaloja, K
Roine, R
Autio, S
Arvio, M
Järvelä, I
Nykänen, I
Palo, J
Salaspuro, M
Producer:
19930106
In:
Biochemistry and cell biology = Biochimie et biologie cellulaire
vol. 70
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48.
Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.
[electronic resource]
by
Gehler, J
Sewell, A C
Becker, C
Spranger, J
Hartmann, J
Producer:
19820222
In:
Journal of inherited metabolic disease
vol. 4
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49.
Liquid-chromatographic detection of aspartylglycosaminuria.
[electronic resource]
by
Mononen, T
Parviainen, M
Penttilä, I
Mononen, I
Producer:
19860403
In:
Clinical chemistry
vol. 32
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50.
Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients.
[electronic resource]
by
Enomaa, N E
Lukinmaa, P L
Ikonen, E M
Waltimo, J C
Palotie, A
Paetau, A E
Peltonen, L
Producer:
19930716
In:
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society
vol. 41
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51.
Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.
[electronic resource]
by
Yamamoto, Toshiyuki
Shimojima, Keiko
Matsufuji, Mayumi
Mashima, Ryuichi
Sakai, Eri
Okuyama, Torayuki
Producer:
20170417
In:
Brain & development
vol. 39
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52.
A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria.
[electronic resource]
by
Mononen, I T
Kaartinen, V M
Williams, J C
Producer:
19930413
In:
Analytical biochemistry
vol. 208
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53.
Structural basis of aspartylglucosaminuria.
[electronic resource]
by
Saito, Seiji
Ohno, Kazuki
Sugawara, Kanako
Suzuki, Toshihiro
Togawa, Tadayasu
Sakuraba, Hitoshi
Producer:
20081216
In:
Biochemical and biophysical research communications
vol. 377
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54.
The genetic mucolipidoses--definition and classification.
[electronic resource]
by
Spranger, J
Producer:
19760301
In:
Birth defects original article series
vol. 11
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55.
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.
[electronic resource]
by
Määttä, A
Järveläinen, H T
Nelimarkka, L O
Penttinen, R P
Producer:
19940322
In:
Biochimica et biophysica acta
vol. 1225
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56.
Disturbed metabolism of copper and zinc in aspartylglycosaminuria: possible involvement with connective tissue changes.
[electronic resource]
by
Näntö-Salonen, K
Halme, T
Penttinen, R
Langevelde, F V
Vis, R D
Alfthan, G
Producer:
19870122
In:
Journal of inherited metabolic disease
vol. 8
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57.
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
[electronic resource]
by
Laitinen, A
Hietala, M
Haworth, J C
Schroeder, M L
Seargeant, L E
Greenberg, C R
Aula, P
Producer:
19970612
In:
Clinical genetics
vol. 51
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58.
Applications of PCR in the diseases of genetic isolates.
[electronic resource]
by
Peltonen, L
Ikonen, E
Paunio, T
Producer:
19920818
In:
Annals of medicine
vol. 24
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59.
Recent findings on some "new" neurometabolic diseases.
[electronic resource]
by
Palo, J
Santavuori, P
Haltia, M
Producer:
19780223
In:
Rivista di patologia nervosa e mentale
vol. 97
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60.
Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate.
[electronic resource]
by
Pande, Suchita
Lakshminarasimhan, Damodharan
Guo, Hwai-Chen
Producer:
20180315
In:
Molecular genetics and metabolism
vol. 121
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