Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
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Purification and structure of human liver aspartylglucosaminidaseHuman leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structureAspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the diseaseThree-dimensional structure of human lysosomal aspartylglucosaminidaseAspartylglycosaminuria: a reviewAspartylglucosaminuria in northern Norway: a molecular and genealogical study.Lysosomal aspartylglucosaminidase is processed to the active subunit complex in the endoplasmic reticulumAngiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).Spectrum of mutations in aspartylglucosaminuria.Molecular characterization of aspartylglucosaminidase, a lysosomal hydrolase upregulated during strobilation in the moon jellyfish, Aurelia aurita.Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.Purification and some properties of 1-aspartamido-beta-N-acetylglucosamine amidohydrolase from human liver.Immediate interaction between the nascent subunits and two conserved amino acids Trp34 and Thr206 are needed for the catalytic activity of aspartylglucosaminidase.Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.Isolation of the liver N-aspartyl-beta-glucosaminidase in aspartylglucosaminuriaGlycoasparagines in the urine of patients with aspartylglycosaminuria.Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides.Measurement of 1-aspartamido-beta-N-acetylglucosamine amidohydrolase activity in human tissues.The glycoasparagines in urine of a patient with aspartylglycosaminuria.A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.The catabolism of mammalian glycoproteins. Comparison of the storage products in bovine, feline and human mannosidosis.Expression and regulation of the human and mouse aspartylglucosaminidase gene.Primary Folding of Aspartylglucosaminidase
P2860
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P2860
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
description
1968 nî lūn-bûn
@nan
1968年の論文
@ja
1968年学术文章
@wuu
1968年学术文章
@zh
1968年学术文章
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1968年学术文章
@zh-hans
1968年学术文章
@zh-my
1968年学术文章
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1968年學術文章
@yue
1968年學術文章
@zh-hant
name
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@en
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@nl
type
label
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@en
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@nl
prefLabel
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@en
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@nl
P2093
P1433
P1476
Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.
@en
P2093
F A Jenner
R J Pollitt
P304
P356
10.1016/S0140-6736(68)92355-6
P407
P577
1968-08-01T00:00:00Z