N-Acetylglucosaminylasparagine (BioDeep_00001868859)
Main id: BioDeep_00000002931
代谢物信息卡片
N(4)-(beta-N-Acetyl-D-glucosaminyl)-L-asparagine
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
谱图信息:
最多检出来源 () 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
An N(4)-glycosyl-L-asparagine having (beta-N-acetyl-D-glucosaminyl as the glycosyl component.
同义名列表
数据库引用编号
7 个数据库交叉引用编号
- ChEBI: CHEBI:17261
- KEGG: C04540
- PubChem: 123826
- CAS: 2776-93-4
- MetaboLights: MTBLC17261
- PubChem: 7146
- NIKKAJI: J37.492J
分类词条
相关代谢途径
Reactome(0)
BioCyc(0)
PlantCyc(0)
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)
0 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。
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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] - E Ikonen, A C Syvänen, L Peltonen. Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions.
Scandinavian journal of clinical and laboratory investigation. Supplementum.
1993; 213(?):19-27. doi:
10.3109/00365519309090670. [PMID: 8322015] - Voznyi YaV, J L Keulemans, W J Kleijer, P Aula, G R Gray, O P van Diggelen. Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria.
Journal of inherited metabolic disease.
1993; 16(6):929-34. doi:
10.1007/bf00711507. [PMID: 8127068] - A C Syvänen, E Ikonen, T Manninen, M Bengtström, H Söderlund, P Aula, L Peltonen. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
Genomics.
1992 Mar; 12(3):590-5. doi:
10.1016/0888-7543(92)90452-x. [PMID: 1559710] - E Ikonen, L Peltonen. Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.
Human mutation.
1992; 1(5):361-5. doi:
10.1002/humu.1380010503. [PMID: 1301945] - M N Loiseau-Corvez, M Bonnaure, C Le Berre, C Jezequel. [Diagnosis of aspartylglycosaminuria in a nine year-old girl admitted to pediatric psychiatry].
Pediatrie.
1992; 47(3):191-4. doi:
NULL. [PMID: 1319042] - J C Haworth, L E Seargeant, L A Dilling. Aspartylglycosaminuria presenting with hepatosplenomegaly in early infancy.
Journal of inherited metabolic disease.
1992; 15(6):933-4. doi:
10.1007/bf01800237. [PMID: 1293392] - E Ikonen, P Aula, K Grön, O Tollersrud, R Halila, T Manninen, A C Syvänen, L Peltonen. Spectrum of mutations in aspartylglucosaminuria.
Proceedings of the National Academy of Sciences of the United States of America.
1991 Dec; 88(24):11222-6. doi:
10.1073/pnas.88.24.11222. [PMID: 1722323] - K Yoshida, S Ikeda, N Yanagisawa, T Yamauchi, S Tsuji, Y Hirabayashi. Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.
Clinical genetics.
1991 Oct; 40(4):318-25. doi:
10.1111/j.1399-0004.1991.tb03102.x. [PMID: 1756604] - H Park, K J Fisher, N N Aronson. Genomic structure of human lysosomal glycosylasparaginase.
FEBS letters.
1991 Aug; 288(1-2):168-72. doi:
10.1016/0014-5793(91)81027-6. [PMID: 1840528] - K J Fisher, N N Aronson. Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient.
FEBS letters.
1991 Aug; 288(1-2):173-8. doi:
10.1016/0014-5793(91)81028-7. [PMID: 1879549] - T Mononen, I Mononen, R Matilainen, E Airaksinen. High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.
Human genetics.
1991 Jul; 87(3):266-8. doi:
10.1007/bf00200902. [PMID: 1864600] - K J Fisher, N N Aronson. Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
The Journal of biological chemistry.
1991 Jun; 266(18):12105-13. doi:
10.1016/s0021-9258(18)99071-x. [PMID: 1904874] - M Bonnaure-Mallet, M N Loiseau-Corvez, J Goasguen, J Apiou, C Jezequel. Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.
Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.
1991 May; 20(5):237-40. doi:
10.1111/j.1600-0714.1991.tb00426.x. [PMID: 2066874] - V Kaartinen, I Mononen. Detection of aspartylglycosaminuria using urine specimens recovered from absorbent filter paper.
Clinica chimica acta; international journal of clinical chemistry.
1990 Oct; 191(1-2):15-20. doi:
10.1016/0009-8981(90)90053-u. [PMID: 2073730] - M Salaspuro, K Salmela, K Humaloja, S Autio, M Arvio, J Palo. Elevated levels of serum dolichol in aspartylglucosaminuria.
Life sciences.
1990; 47(7):627-32. doi:
10.1016/0024-3205(90)90574-b. [PMID: 2402187] - V Kaartinen, I Mononen. Analysis of aspartylglucosamine at the picomole level by high-performance liquid chromatography.
Journal of chromatography.
1989 May; 490(2):293-9. doi:
10.1016/s0378-4347(00)82787-5. [PMID: 2768403] - T K Mononen. Aspartylglucosamine excretion in heterozygous carriers of aspartylglycosaminuria.
Clinica chimica acta; international journal of clinical chemistry.
1989 Mar; 180(1):99-101. doi:
10.1016/0009-8981(89)90302-1. [PMID: 2743573] - D Chitayat, S Nakagawa, R W Marion, G S Sachs, S Y Hahm, H S Goldman. Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.
American journal of medical genetics.
1988 Nov; 31(3):527-32. doi:
10.1002/ajmg.1320310307. [PMID: 3228136] - J L Rudy. Aspartylglycosaminuria diagnosed by routine urine amino acid assay.
Clinical chemistry.
1988 Oct; 34(10):2164. doi:
10.1093/clinchem/34.10.2164a. [PMID: 3168251] - I Mononen, V Kaartinen, T Mononen. Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria.
Journal of inherited metabolic disease.
1988; 11(2):194-8. doi:
10.1007/bf01799872. [PMID: 3139932] - I Mononen, V Kaartinen, T Mononen. Laboratory detection of aspartylglycosaminuria.
Scandinavian journal of clinical and laboratory investigation. Supplementum.
1988; 191(?):7-11. doi:
. [PMID: 3247584] - K Näntö-Salonen, H Larjava, A M Säämanen, J Heino, R Penttinen, L J Pelliniemi, M Tammi. Abnormal dermal proteoglycan in aspartylglycosaminuria: a possible mechanism for ultrastructural changes of collagen fibrils in a glycoprotein storage disorder.
Connective tissue research.
1987; 16(4):367-76. doi:
10.3109/03008208709005621. [PMID: 3132350] - T Mononen, M Parviainen, I Penttilä, I Mononen. Liquid-chromatographic detection of aspartylglycosaminuria.
Clinical chemistry.
1986 Mar; 32(3):501-2. doi:
10.1093/clinchem/32.3.501. [PMID: 3948393] - K Näntö-Salonen, H Larjava, M Aalto, T Kivimäki. Urinary glycosaminoglycans in aspartylglycosaminuria: evidence for disturbed proteoglycan metabolism.
Clinica chimica acta; international journal of clinical chemistry.
1985 Mar; 146(2-3):111-8. doi:
10.1016/0009-8981(85)90049-x. [PMID: 3987044] - M J Henderson, J T Allen, J B Holton, R Goodall. Extra heating of amino acids.
Clinica chimica acta; international journal of clinical chemistry.
1985 Mar; 146(2-3):203-5. doi:
10.1016/0009-8981(85)90059-2. [PMID: 3987048] - K Näntö-Salonen, T Halme, R Penttinen, F V Langevelde, R D Vis, G Alfthan. Disturbed metabolism of copper and zinc in aspartylglycosaminuria: possible involvement with connective tissue changes.
Journal of inherited metabolic disease.
1985; 8(4):212-8. doi:
10.1007/bf01805438. [PMID: 3939546] - S Musumeci, A Salvati, G Schiliró, G Salvo, R Di Dio, P Caprari. Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child.
American journal of medical genetics.
1984 Dec; 19(4):643-50. doi:
10.1002/ajmg.1320190403. [PMID: 6517093] - Y Suzuki. [Mucopolysaccharidoses and disorders of glycoprotein metabolism].
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.
1984 Dec; 29(14):1759-69. doi:
NULL. [PMID: 6241960] - K Näntö-Salonen, L J Pelliniemi, S Autio, T Kivimäki, J Rapola, R Penttinen. Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder.
Laboratory investigation; a journal of technical methods and pathology.
1984 Oct; 51(4):464-8. doi:
NULL. [PMID: 6592395] - P Aula, J Rapola, H von Koskull, P Ammälä. Prenatal diagnosis and fetal pathology of aspartylglucosaminuria.
American journal of medical genetics.
1984 Oct; 19(2):359-67. doi:
10.1002/ajmg.1320190218. [PMID: 6507482] - K Näntö-Salonen, S Autio, E Härö, T Kivimäki, S L Koskela, V Näntö, R Penttinen. Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.
Journal of inherited metabolic disease.
1984; 7(3):117-21. doi:
10.1007/bf01801767. [PMID: 6438393] - K Yamada, S Shimizu, N Takahashi. Histochemical demonstration of asparagine-linked oligosaccharides in glycoproteins of human placenta and umbilical cord tissues by means of almond glycopeptidase digestion.
The Histochemical journal.
1983 Dec; 15(12):1239-50. doi:
10.1007/bf01002742. [PMID: 6643119] - O Simell, I Sipilä, S Autio. Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening.
Clinica chimica acta; international journal of clinical chemistry.
1983 Sep; 133(2):227-32. doi:
10.1016/0009-8981(83)90409-6. [PMID: 6627685] - T G Warner, J S O'Brien. Genetic defects in glycoprotein metabolism.
Annual review of genetics.
1983; 17(?):395-441. doi:
10.1146/annurev.ge.17.120183.002143. [PMID: 6421228] - C P Maury. Aspartylglycosaminuria: an inborn error of glycoprotein catabolism.
Journal of inherited metabolic disease.
1982; 5(4):192-6. doi:
10.1007/bf02179139. [PMID: 6820440] - K Näntö-Salonen, R Penttinen. Metabolism of collagen in aspartylglycosaminuria: decreased synthesis by cultured fibroblasts.
Journal of inherited metabolic disease.
1982; 5(4):197-203. doi:
10.1007/bf02179141. [PMID: 6820441] - C P Maury. Detection of aspartylglycosaminuria by gas--liquid chromatography.
Clinical chemistry.
1981 Dec; 27(12):2058-60. doi:
10.1093/clinchem/27.12.2058. [PMID: 7307258] - R J Carter, F F Snyder. Measurement of aspartylglucosamine in physiological fluids with an amino acid analyzer: fused peak analysis with dual photometers.
Analytical biochemistry.
1981 Sep; 116(2):273-9. doi:
10.1016/0003-2697(81)90356-0. [PMID: 7316155] - C P Maury, M Haltia, J Palo. Regional distribution of glycoasparagine storage material in the brain in aspartylglycosaminuria.
Journal of the neurological sciences.
1981 May; 50(2):291-8. doi:
10.1016/0022-510x(81)90174-x. [PMID: 6164750] - J Gehler, A C Sewell, C Becker, J Spranger, J Hartmann. Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.
Journal of inherited metabolic disease.
1981; 4(4):229-30. doi:
10.1007/bf02263658. [PMID: 6796777] - J Gehler, A C Sewell, C Becker, J Hartmann, J Spranger. Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.
Helvetica paediatrica acta.
1981; 36(2):179-89. doi:
. [PMID: 6788730] - C P Maury, J Palo. N-Acetylglucosamine-asparagine levels in tissues of patients with aspartylglycosaminuria.
Clinica chimica acta; international journal of clinical chemistry.
1980 Dec; 108(2):293-9. doi:
10.1016/0009-8981(80)90016-9. [PMID: 7449147] - C P Maury. Accumulation of glycoprotein-derived metabolites in neural and visceral tissue in aspartylglycosaminuria.
The Journal of laboratory and clinical medicine.
1980 Nov; 96(5):838-44. doi:
NULL. [PMID: 7419967] - K M Marnela. Automated ion-exchange chromatography in the detection of aspartylglucosaminuria.
Journal of chromatography.
1980 Jun; 182(3-4):409-13. doi:
10.1016/s0378-4347(00)81491-7. [PMID: 7391183] - P Maury. Quantitative determination of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in the urine of patients with aspartylglycosaminuria by gas-liquid chromatography.
The Journal of laboratory and clinical medicine.
1979 May; 93(5):718-23. doi:
NULL. [PMID: 429870] - P Maury, J Kärkkäinen. Identification of 4-N-2-acetamido-2-deoxy-beta-D-glucopyranosyl-L-asparagine in biological materials by gas chromatography-mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry.
1979 Jan; 91(1):75-9. doi:
10.1016/0009-8981(79)90473-x. [PMID: 761395] - O Borud, J H Strömme, S O Lie, K H Torp. Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the diet.
Journal of inherited metabolic disease.
1978; 1(3):95-7. doi:
10.1007/bf01805680. [PMID: 116085]
