about
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblastsMixed-lipid storage disorder induced in macrophages and fibroblasts by oritavancin (LY333328), a new glycopeptide antibiotic with exceptional cellular accumulationMucopolysaccharidoses and mucolipidoses.The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidaseCharacterization of beta-D-galactosidase isolated from I-cell disease liver.Inborn errors of metabolism: principles and their applications.A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Neurochemical abnormality in I-cell disease: chemical analysis and a possible importance of beta-galactosidase deficiency.The missing link in lysosomal enzyme targeting.Reliable diagnosis of the major type of cystic fibrosis with fibroblast cultures. A double blind study.Endocytosis of beta-N-acetylglucosaminidase from sections of mucolipidosis-II and-III fibroblasts by non-parenchymal rat liver cells.Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.Brain sphingolipids in I cell disease (mucolipidosis II).Mucolipidosis II (I-cell disease). A clinical and biochemical study.
P2860
Q24616088-022B9851-8C68-4CD0-ABCF-CC8185091234Q33770082-1F7448A4-FA4B-440C-9ED4-2AD283B3626BQ34302974-0F422078-05E6-4975-BFEB-D49D6F7568DCQ34719775-ECECE2D5-AAA0-451B-8410-8F1EA929A37EQ35570902-89844C5E-D952-435C-A5C0-EF2B575EC823Q35926081-D65D9881-006C-43DF-960A-13A4942B3D57Q36434259-894C71FD-F156-45EA-B3CC-928FAC80DD5BQ38684097-14115688-8EDB-49D1-94B1-E2065134169AQ39645378-9EBA0D03-FB1B-40E1-AC46-5776EAEDBD7FQ40326866-289AED18-F5AB-4C66-95C8-57C81B844CFDQ40940601-D45DE780-C3A7-4828-B559-97EEAF316A90Q41957045-0DD061AA-6B91-4CF9-A854-92B8090D786AQ41978517-EFBAACC1-A58A-4FAB-AE1E-68EFE6C4B224Q44009085-75377BC2-777D-4BE3-8238-92155F7C72A3Q53788990-05C13761-5DF8-4899-9D10-638390B27EBB
P2860
description
1971 nî lūn-bûn
@nan
1971年の論文
@ja
1971年学术文章
@wuu
1971年学术文章
@zh-cn
1971年学术文章
@zh-hans
1971年学术文章
@zh-my
1971年学术文章
@zh-sg
1971年學術文章
@yue
1971年學術文章
@zh
1971年學術文章
@zh-hant
name
I-cell disease: multiple lysosomal-enzyme defect.
@en
I-cell disease: multiple lysosomal-enzyme defect.
@nl
type
label
I-cell disease: multiple lysosomal-enzyme defect.
@en
I-cell disease: multiple lysosomal-enzyme defect.
@nl
prefLabel
I-cell disease: multiple lysosomal-enzyme defect.
@en
I-cell disease: multiple lysosomal-enzyme defect.
@nl
P2093
P1433
P1476
I-cell disease: multiple lysosomal-enzyme defect.
@en
P2093
J Lightbody
N Herschkowitz
U Wiesmann
P356
10.1016/S0140-6736(71)92435-4
P407
P577
1971-02-01T00:00:00Z