N-acetylglucosaminylasparagine (BioDeep_00000002931)

 

Secondary id: BioDeep_00000897336, BioDeep_00001868859

human metabolite Endogenous


代谢物信息卡片


(2S)-2-amino-3-{[(2R,3R,4R,5S,6R)-3-acetamido-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]carbamoyl}propanoic acid

化学式: C12H21N3O8 (335.1329)
中文名称: 2-乙酰基-1-B-(L-天冬酰胺)-1,2-双脱氧-D-葡萄糖, 天冬氨酰糖胺
谱图信息: 最多检出来源 Homo sapiens(feces) 17.41%

Reviewed

Last reviewed on 2024-09-13.

Cite this Page

N-acetylglucosaminylasparagine. BioDeep Database v3. PANOMIX ltd, a top metabolomics service provider from China. https://query.biodeep.cn/s/n-acetylglucosaminylasparagine (retrieved 2024-12-23) (BioDeep RN: BioDeep_00000002931). Licensed under the Attribution-Noncommercial 4.0 International License (CC BY-NC 4.0).

分子结构信息

SMILES: CC(=O)NC1C(C(C(OC1NC(=O)CC(C(=O)O)N)CO)O)O
InChI: InChI=1S/C12H21N3O8/c1-4(17)14-8-10(20)9(19)6(3-16)23-11(8)15-7(18)2-5(13)12(21)22/h5-6,8-11,16,19-20H,2-3,13H2,1H3,(H,14,17)(H,15,18)(H,21,22)/t5-,6+,8+,9+,10+,11+/m0/s1

描述信息

Aspartylglycosamine, also known as n4-(beta-N-acetyl-D-glucosaminyl)-L-asparagine or 1-beta-aspartyl-N-acetyl-D-glucosaminylamine, is a member of the class of compounds known as glycosylamines. Glycosylamines are compounds consisting of an amine with a beta-N-glycosidic bond to a carbohydrate, thus forming a cyclic hemiaminal ether bond (alpha-amino ether). Aspartylglycosamine is soluble (in water) and a moderately acidic compound (based on its pKa). Aspartylglycosamine can be found primarily in urine, as well as in human spleen tissue. Within the cell, aspartylglycosamine is primarily located in the cytoplasm. Moreover, aspartylglycosamine is found to be associated with aspartylglucosaminuria, which is an inborn error of metabolism. Large amount of aspartylglycosamine appears in patients with aspartylglycosaminuria corresponding to decreased activity of aspartylglycosamine amido hydrolase.
Large amount of aspartylglycosamine appears in patients with aspartylglycosaminuria, which is a metabolic disorder associated with decreased activity of aspartylglycosamine amido hydrolase. [HMDB]

同义名列表

58 个代谢物同义名

(2S)-2-amino-3-{[(2R,3R,4R,5S,6R)-3-acetamido-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]carbamoyl}propanoic acid; (N-gamma-(2-Acetamido-2-deoxy-beta-delta-gluco-pyranosyl)-L-asparagine; 2-Acetamido-1-N-(4-L-aspartyl)-2-deoxy-beta-delta-glucopyranosylamine; 2-Acetamido-N(1)-L-beta-aspartyl-2-deoxy-beta-D-glucopyranosylamine; (N-gamma-(2-Acetamido-2-deoxy-beta-D-gluco-pyranosyl)-L-asparagine; 2-Acetamido-1-N-(4-L-aspartyl)-2-deoxy-beta-D-glucopyranosylamine; N-(2-(Acetylamino)-2-deoxy-beta-delta-glucopyranosyl)L-asparagine; 2-Acetamido-N-L-beta-aspartyl-2-deoxy-beta-D-glucopyranosylamine; N-(2-Acetylamino)-2-deoxy-beta-delta-glucopyranosyl-L-asparagine; 4-N-2-Acetamido-2-deoxy-beta-delta-glucopyranosyl-L-asparagine; 2-Acetamido-1-N-(4-L-aspartyl)-2-deoxy-b-D-glucopyranosylamine; 2-Acetamido-1-N-(4-L-aspartyl)-2-deoxy-β-D-glucopyranosylamine; 2-Acetamido-1-(beta-L-aspartamido)-1,2-dideoxy-beta-D-glucose; N(4)-(2-Acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine; 2-Acetamido-N(1)-L-b-aspartyl-2-deoxy-b-D-glucopyranosylamine; N-(2-(Acetylamino)-2-deoxy-beta-D-glucopyranosyl)L-asparagine; 2-Acetamido-N(1)-L-β-aspartyl-2-deoxy-β-D-glucopyranosylamine; N-(2-Acetylamino)-2-deoxy-beta-D-glucopyranosyl-L-asparagine; 2-Acetamido-1-beta-(L-aspartamido)-1,2-dideoxy-delta-glucose; (N-g-(2-Acetamido-2-deoxy-b-D-gluco-pyranosyl)-L-asparagine; 4-N-2-Acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine; 2-Acetamido-N-L-b-aspartyl-2-deoxy-b-D-glucopyranosylamine; 2-Acetamido-N-L-β-aspartyl-2-deoxy-β-D-glucopyranosylamine; 2-Acetamido-1-beta-(L-aspartamido)-1,2-dideoxy-D-glucose; 2-Acetamido-1-(b-L-aspartamido)-1,2-dideoxy-b-D-glucose; 2-Acetamido-1-(β-L-aspartamido)-1,2-dideoxy-β-D-glucose; 2-Acetamido-1-b-(L-aspartamido)-1,2-dideoxy-D-glucose; N(4)-(2-Acetamido-2-deoxyglucopyranosyl)asparagine; N(4)-(beta-N-Acetyl-D-glucosaminyl)-L-asparagine; N4-(beta-N-Acetyl-D-glucosaminyl)-L-asparagine; N(4)-(b-N-Acetyl-D-glucosaminyl)-L-asparagine; N(4)-(Β-N-acetyl-D-glucosaminyl)-L-asparagine; 1-beta-Aspartyl-N-acetyl-D-glucosaminylamine; N4-(b-N-Acetyl-D-glucosaminyl)-L-asparagine; N(4)-(Acetyl-beta-D-glucosaminyl)asparagine; N4-(Β-N-acetyl-D-glucosaminyl)-L-asparagine; N4-(Acetyl-beta-D-glucosaminyl)asparagine; 1-b-Aspartyl-N-acetyl-D-glucosaminylamine; 1-Β-aspartyl-N-acetyl-D-glucosaminylamine; N4-(Acetyl-β-D-glucosaminyl)asparagine; beta-N-Acetylglucosaminyl-L-asparagine; N4-(Acetyl-b-D-glucosaminyl)asparagine; b-N-Acetylglucosaminyl-L-asparagine; Β-N-acetylglucosaminyl-L-asparagine; N-Acetylglucosaminylasparagine; Acetylglucosaminylasparagine; beta-delta-GlcNAc-1->n-asn; H-Asn(GlcNAc-beta-D)-OH; Asparaginylglucosamine; beta-D-GlcNAc-1->n-asn; Aspartylglucosylamine; H-Asn(glcnac-b-D)-OH; b-D-GlcNAc-1->n-asn; Aspartylglycosamine; Aspartylglucosamine; N-ADGP-asn; AADG; N-Acetylglucosaminylasparagine



数据库引用编号

13 个数据库交叉引用编号

分类词条

相关代谢途径

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代谢反应

0 个相关的代谢反应过程信息。

Reactome(0)

BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

PathBank(0)

PharmGKB(0)

1 个相关的物种来源信息

在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：

  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。

亚细胞结构定位 关联基因列表
Cytoplasm 5 AGA, IDS, NGLY1, PRKAA2, TPP1
Endoplasmic reticulum membrane 1 NFE2L1
Nucleus 6 ATF1, CREB1, NFE2L1, NGLY1, PRKAA2, TPP1
cytosol 4 NFE2L1, NGLY1, PRKAA2, TPP1
dendrite 1 PRKAA2
nuclear body 1 TPP1
nucleoplasm 5 ATF1, CREB1, NFE2L1, PRKAA2, TPP1
RNA polymerase II transcription regulator complex 2 ATF1, CREB1
Cell membrane 1 SLC12A2
Multi-pass membrane protein 1 SLC12A2
Golgi apparatus 2 PRKAA2, TPP1
lysosomal membrane 1 GAA
neuronal cell body 2 PRKAA2, SLC12A2
Lysosome 4 AGA, GAA, IDS, TPP1
plasma membrane 2 GAA, SLC12A2
Membrane 4 GAA, GUSB, PRKAA2, SLC12A2
apical plasma membrane 1 SLC12A2
axon 1 PRKAA2
basolateral plasma membrane 1 SLC12A2
extracellular exosome 4 GAA, GUSB, SLC12A2, TPP1
Lysosome membrane 1 GAA
endoplasmic reticulum 1 AGA
extracellular space 3 AGA, GUSB, TG
lysosomal lumen 4 GAA, GUSB, IDS, TPP1
intracellular membrane-bounded organelle 2 GAA, GUSB
Secreted 2 GAA, TG
extracellular region 4 AGA, GAA, GUSB, TG
Extracellular vesicle 1 SLC12A2
recycling endosome 1 TPP1
Single-pass type II membrane protein 1 NFE2L1
Membrane raft 1 TPP1
lateral plasma membrane 1 SLC12A2
nuclear speck 1 PRKAA2
Late endosome 1 TPP1
neuron projection 1 SLC12A2
chromatin 3 ATF1, CREB1, NFE2L1
cell projection 1 SLC12A2
cell periphery 1 SLC12A2
Chromosome, telomere 1 TPP1
chromosome, telomeric region 1 TPP1
Basolateral cell membrane 1 SLC12A2
Cytoplasmic vesicle membrane 1 SLC12A2
tertiary granule membrane 1 GAA
Melanosome 1 TPP1
cytoplasmic stress granule 1 PRKAA2
euchromatin 1 CREB1
cell body 1 SLC12A2
basal plasma membrane 1 SLC12A2
ficolin-1-rich granule lumen 1 GUSB
azurophil granule membrane 1 GAA
Single-pass type III membrane protein 1 NFE2L1
azurophil granule lumen 2 AGA, GUSB
nuclear telomere cap complex 1 TPP1
telomerase holoenzyme complex 1 TPP1
ficolin-1-rich granule membrane 1 GAA
nucleotide-activated protein kinase complex 1 PRKAA2
autolysosome lumen 1 GAA
cell body membrane 1 SLC12A2
cell projection membrane 1 SLC12A2
ATF4-CREB1 transcription factor complex 2 ATF1, CREB1
ATF1-ATF4 transcription factor complex 1 ATF1
shelterin complex 1 TPP1
[Endoplasmic reticulum membrane sensor NFE2L1]: Endoplasmic reticulum membrane 1 NFE2L1
[Transcription factor NRF1]: Nucleus 1 NFE2L1


文献列表

  • Makoto Asahina, Reiko Fujinawa, Haruhiko Fujihira, Yuki Masahara-Negishi, Tomohiro Andou, Ryuichi Tozawa, Tadashi Suzuki. JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency. Proceedings of the Japan Academy. Series B, Physical and biological sciences. 2021; 97(2):89-102. doi: 10.2183/pjab.97.005. [PMID: 33563880]
  • Ulla Dunder, Pirjo Valtonen, Eira Kelo, Ilkka Mononen. Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice. Journal of inherited metabolic disease. 2010 Oct; 33(5):611-7. doi: 10.1007/s10545-010-9158-7. [PMID: 20607610]
  • T Autti, T Lönnqvist, R Joensuu. Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria. Acta radiologica (Stockholm, Sweden : 1987). 2008 Jul; 49(6):687-92. doi: 10.1080/02841850802065000. [PMID: 18568562]
  • Niki Lindblom, Satu Kivinen, Hannu Heiskala, Maija-Liisa Laakso, Markus Kaski. Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study. Journal of inherited metabolic disease. 2006 Oct; 29(5):637-46. doi: 10.1007/s10545-006-0390-0. [PMID: 16944277]
  • M Arvio, P Arvio, K Hurmerinta, S Pirinen, M Sillanpää. Reduction in head size in patients with aspartylglucosaminuria. Acta neurologica Scandinavica. 2005 Nov; 112(5):335-7. doi: 10.1111/j.1600-0404.2005.00492.x. [PMID: 16218917]
  • Eira Kelo, Ulla Dunder, Ilkka Mononen. Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy. Glycobiology. 2005 Jan; 15(1):79-85. doi: 10.1093/glycob/cwh145. [PMID: 15342551]
  • Gunilla Malm, Jan-Eric Månsson, Jacek Winiarski, Mikael Mosskin, Olle Ringdén. Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors. Transplantation. 2004 Aug; 78(3):415-9. doi: 10.1097/00007890-200408150-00015. [PMID: 15316370]
  • Angelo Labate, Rita Barone, Antonio Gambardella, Donata Civitelli, Agata Fiumara, Grazia Annesi, Mario Zappia, Lorenzo Pavone, Aldo Quattrone. Startle epilepsy complicating aspartylglucosaminuria. Brain & development. 2004 Mar; 26(2):130-3. doi: 10.1016/s0387-7604(03)00069-x. [PMID: 15036433]
  • E Vargas-Díez, A Chabás, M J Coll, J Sánchez-Pérez, A García-Díez, J M Fernández-Herrera. Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. The British journal of dermatology. 2002 Oct; 147(4):760-4. doi: 10.1046/j.1365-2133.2002.04827.x. [PMID: 12366426]
  • R Guy, J M Forsyth, A Cooper, R E Morton. Co-existence of lysosomal storage diseases in a consanguineous family. Child: care, health and development. 2001 Mar; 27(2):173-81. doi: 10.1046/j.1365-2214.2001.00165.x. [PMID: 11251615]
  • U Dunder, V Kaartinen, P Valtonen, E Väänänen, V M Kosma, N Heisterkamp, J Groffen, I Mononen. Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2000 Feb; 14(2):361-7. doi: 10.1096/fasebj.14.2.361. [PMID: 10657992]
  • E L Romppanen, I Mononen. PCR-oligonucleotide ligation assay from dried blood spots. Clinical chemistry. 1999 Nov; 45(11):2022-5. doi: 10.1093/clinchem/45.11.2022. [PMID: 10545079]
  • N N Aronson. Aspartylglycosaminuria: biochemistry and molecular biology. Biochimica et biophysica acta. 1999 Oct; 1455(2-3):139-54. doi: 10.1016/s0925-4439(99)00076-9. [PMID: 10571008]
  • M Laine, J Richter, C Fahlman, J Rapola, M Renlund, L Peltonen, S Karlsson, A Jalanko. Correction of peripheral lysosomal accumulation in mice with aspartylglucosaminuria by bone marrow transplantation. Experimental hematology. 1999 Sep; 27(9):1467-74. doi: 10.1016/s0301-472x(99)00075-2. [PMID: 10480438]
  • P Arvio, M Arvio, E Marttinen, I Sipilä, S Pirinen. Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria. The Journal of pediatrics. 1999 Jun; 134(6):761-3. doi: 10.1016/s0022-3476(99)70294-5. [PMID: 10356147]
  • P Arvio, M Arvio, M Kero, S Pirinen, P L Lukinmaa. Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria. Journal of medical genetics. 1999 May; 36(5):398-404. doi: NULL. [PMID: 10353787]
  • S Valkonen, M Hietala, M L Savontaus, P Aula. Origin of Finnish mutations causing aspartylglucosaminuria. Hereditas. 1999; 131(3):191-5. doi: 10.1111/j.1601-5223.1999.t01-1-00191.x. [PMID: 10783529]
  • A Jalanko, K Tenhunen, C E McKinney, M E LaMarca, J Rapola, T Autti, R Joensuu, T Manninen, I Sipilä, S Ikonen, P Riekkinen, E I Ginns, L Peltonen. Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Human molecular genetics. 1998 Feb; 7(2):265-72. doi: 10.1093/hmg/7.2.265. [PMID: 9425233]
  • S Yamaguchi. [Aspartylglucosaminuria]. Ryoikibetsu shokogun shirizu. 1998; ?(19 Pt 2):466-8. doi: NULL. [PMID: 9645112]
  • J Zlotogora, Z Ben-Neriah, B Y Abu-Libdeh, V Sury, M Zeigler. Aspartylglucosaminuria among Palestinian Arabs. Journal of inherited metabolic disease. 1997 Nov; 20(6):799-802. doi: 10.1023/a:1005371802085. [PMID: 9427148]
  • A Laitinen, M Hietala, J C Haworth, M L Schroeder, L E Seargeant, C R Greenberg, P Aula. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. Clinical genetics. 1997 Mar; 51(3):174-8. doi: 10.1111/j.1399-0004.1997.tb02448.x. [PMID: 9137882]
  • M Hietala, P Aula, A C Syvänen, A Isoniemi, L Peltonen, A Palotie. DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices. Clinical chemistry. 1996 Sep; 42(9):1398-404. doi: 10.1093/clinchem/42.9.1398. [PMID: 8787695]
  • P Aula, M Hietala, P Niemelä, A R Aro, A Hakonen, L Peltonen. [Attitudes toward genetic testing in Finland]. Duodecim; laaketieteellinen aikakauskirja. 1996; 112(2):95-102. doi: NULL. [PMID: 10590612]
  • H Park, M Rossiter, A H Fensom, B Winchester, N N Aronson. Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin. Journal of inherited metabolic disease. 1996; 19(1):76-83. doi: 10.1007/bf01799351. [PMID: 8830180]
  • F Irie, H Murakoshi, T Suzuki, Y Suzuki, K Kon, S Ando, K Yoshida, Y Hirabayashi. Characterization of four monosialo and a novel disialo Asn N-glycosides from the urine of a patient with aspartylglycosaminuria. Glycoconjugate journal. 1995 Jun; 12(3):290-7. doi: 10.1007/bf00731332. [PMID: 7496144]
  • N Enomaa, O Danos, L Peltonen, A Jalanko. Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. Human gene therapy. 1995 Jun; 6(6):723-31. doi: 10.1089/hum.1995.6.6-723. [PMID: 7548272]
  • I Mononen, N Heisterkamp, U Dunder, E L Romppanen, T Noronkoski, I Kuronen, J Groffen. Recombinant glycosylasparaginase and in vitro correction of aspartylglycosaminuria. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 1995 Mar; 9(5):428-33. doi: 10.1096/fasebj.9.5.7896015. [PMID: 7896015]
  • R Matilainen, E Airaksinen, T Mononen, K Launiala, R Kääriäinen. A population-based study on the causes of mild and severe mental retardation. Acta paediatrica (Oslo, Norway : 1992). 1995 Mar; 84(3):261-6. doi: 10.1111/j.1651-2227.1995.tb13626.x. [PMID: 7780246]
  • M Candito, P Parvy, J Bardet, D Rabier, P Chambon, R Mariani, P Kamoun. [Contribution of ion exchange chromatography of amino acids to the diagnosis of aspartylglucosaminuria]. Annales de biologie clinique. 1995; 53(3):145-6. doi: NULL. [PMID: 7574100]
  • A Isoniemi, M Hietala, P Aula, A Jalanko, L Peltonen. Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene. Human mutation. 1995; 5(4):318-26. doi: 10.1002/humu.1380050408. [PMID: 7627186]
  • C M Delahunty, W Ankener, S Brainerd, D A Nickerson, I T Mononen. Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. Clinical chemistry. 1995 Jan; 41(1):59-61. doi: 10.1093/clinchem/41.1.59. [PMID: 7813081]
  • J Rapola. Lysosomal storage diseases in adults. Pathology, research and practice. 1994 Sep; 190(8):759-66. doi: 10.1016/s0344-0338(11)80422-x. [PMID: 7831151]
  • I Mononen, P Ylikangas, T Mononen, K Savolainen. Neonatal detection of aspartylglycosaminuria. Lancet (London, England). 1994 May; 343(8908):1297-8. doi: 10.1016/s0140-6736(94)92187-3. [PMID: 7910306]
  • O K Tollersrud, O Nilssen, L Tranebjaerg, O Borud. Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. Journal of medical genetics. 1994 May; 31(5):360-3. doi: 10.1136/jmg.31.5.360. [PMID: 8064811]
  • I Mononen, T Mononen, P Ylikangas, V Kaartinen, K Savolainen. Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes. Clinical chemistry. 1994 Mar; 40(3):385-8. doi: . [PMID: 8131272]
  • A Määttä, H T Järveläinen, L O Nelimarkka, R P Penttinen. Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. Biochimica et biophysica acta. 1994 Feb; 1225(3):264-70. doi: 10.1016/0925-4439(94)90005-1. [PMID: 8312372]
  • I Mononen, K J Fisher, V Kaartinen, N N Aronson. Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 1993 Oct; 7(13):1247-56. doi: 10.1096/fasebj.7.13.8405810. [PMID: 8405810]
  • K Yoshida. [Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria]. Nihon rinsho. Japanese journal of clinical medicine. 1993 Sep; 51(9):2308-13. doi: NULL. [PMID: 8411707]
  • M Arvio. Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions. Acta paediatrica (Oslo, Norway : 1992). 1993 May; 82(5):469-71. doi: 10.1111/j.1651-2227.1993.tb12725.x. [PMID: 8518524]
  • M Arvio, V Oksanen, S Autio, E Gaily, K Sainio. Epileptic seizures in aspartylglucosaminuria: a common disorder. Acta neurologica Scandinavica. 1993 May; 87(5):342-4. doi: 10.1111/j.1600-0404.1993.tb04114.x. [PMID: 8333236]
  • O Nilssen, O K Tollersrud, O Borud, L Tranebjaerg. A simple and rapid PCR based method for AGU(Fin) determination. Human molecular genetics. 1993 Apr; 2(4):484. doi: 10.1093/hmg/2.4.484. [PMID: 8504311]
  • H Park, M B Vettese, A H Fensom, K J Fisher, N N Aronson. Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient. The Biochemical journal. 1993 Mar; 290 ( Pt 3)(?):735-41. doi: 10.1042/bj2900735. [PMID: 8457202]
  • M Arvio, J Hautamäki, P Tiilikka. Reliability and validity of the Portage assessment scale for clinical studies of mentally handicapped populations. Child: care, health and development. 1993 Mar; 19(2):89-98. doi: 10.1111/j.1365-2214.1993.tb00716.x. [PMID: 8462133]
  • I T Mononen, V M Kaartinen, J C Williams. A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria. Analytical biochemistry. 1993 Feb; 208(2):372-4. doi: 10.1006/abio.1993.1063. [PMID: 8452235]
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