Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.
about
Mucopolysaccharidoses and mucolipidoses.The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidaseEnveloped virus acquires membrane defect when passaged in fibroblasts from I-cell disease patients.Characterization of beta-D-galactosidase isolated from I-cell disease liver.Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.I-cell disease--mucolipidosis II.Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis IIIProperties of acid beta-D-galactosidase isolated from I-cell disease brain and spleen.Investigation of degenerative disease of the central nervous system.I-cell disease.Neurochemical abnormality in I-cell disease: chemical analysis and a possible importance of beta-galactosidase deficiency.The missing link in lysosomal enzyme targeting.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
Q34302974-47A4ACE0-BCC6-4443-8E2E-20BAE6B4A547Q34719775-8E63776B-0AB6-439C-910F-A81D6F265033Q35011596-F5F6B324-D558-477C-B51A-7723ADBBDD83Q35570902-925A452E-5BF9-4C4C-B71F-225356176E4DQ36218735-EFA0EB5C-7BD5-4447-A9D6-A768BA68DD6FQ36434259-3603A43A-D712-4A56-9D1A-46F317744052Q36505427-F07854AC-2BEB-4585-A9F1-758D8BE09CFDQ36810487-DAC321D9-56F4-4624-BE99-BCC648BB2D79Q39246351-9F6E9122-8FA7-47ED-81B4-208F08265250Q39248767-E11A4081-9B0D-4EAF-8F65-B7AB0CFE98A4Q39509695-76A9621E-26F7-48F8-B7F5-06C2E43652F9Q39617017-54D117EB-5C6A-4778-8A18-2E046D33CA3DQ39645378-A576649E-7865-40D5-BCA1-235CC73B7D21Q40326866-801F7F9C-E2EA-4C44-A9FD-10011DB11F7BQ41957045-24A97BC7-9B2F-43F2-8583-A4D4925D03C3Q41978517-1EAF3716-5C3E-4933-9D50-E9B5C82954ACQ44009085-5A74729B-81EF-42B7-AB0F-466BF53EB258Q53788990-2C6B1147-0043-4031-9E4E-A2E201F6ADD3
P2860
Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.
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
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-hant
name
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@en
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@nl
type
label
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@en
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@nl
prefLabel
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@en
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@nl
P2093
P1476
Clinical, biochemical, and ult ...... l phenotype in tissue culture.
@en
P2093
Dereume JP
Mockel-Pohl S
Vamos-Hurwitz E
P304
P356
10.1016/S0022-3476(71)80143-9
P407
P577
1971-09-01T00:00:00Z