I-cell disease (mucolipidosis II):a report on its pathology.
about
Dominant inheritance of sialuria, an inborn error of feedback inhibitionA novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathologyDelineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.Lysosomal storage disease: revealing lysosomal function and physiology.Properties of acid beta-D-galactosidase isolated from I-cell disease brain and spleen.Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.Menkes kinky-hair disease. A report on its pathology.
P2860
Q24533534-DF67F94F-62AA-4830-A382-64F12D4DF983Q34244952-B37CDE46-22B2-4D77-9555-F4E70DB61DCAQ35625960-9F5B39C6-AAD6-46CB-95D2-17EC38382E56Q36505427-7173C0CA-DA27-4B8A-997E-18D58FDF0125Q37017526-3BD46718-9E40-473D-9F6E-359D1C934325Q37413697-344981C7-6A84-4D91-9E7B-F33F1906419EQ37739706-425BF4E0-0EC9-46DE-96CC-95A8C57C151BQ39248767-250914BE-3A02-4B14-90A3-AD35AC66493BQ41978517-B310C2D3-5A25-4413-AD6E-102C75A1AEBEQ48195408-D0135161-02B0-45E4-8801-0D2EA4502E3E
P2860
I-cell disease (mucolipidosis II):a report on its pathology.
description
1975 nî lūn-bûn
@nan
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
1975年论文
@zh
1975年论文
@zh-cn
name
I-cell disease (mucolipidosis II):a report on its pathology.
@en
I-cell disease
@nl
type
label
I-cell disease (mucolipidosis II):a report on its pathology.
@en
I-cell disease
@nl
prefLabel
I-cell disease (mucolipidosis II):a report on its pathology.
@en
I-cell disease
@nl
P2093
P356
P1476
I-cell disease (mucolipidosis II):a report on its pathology.
@en
P2093
G Fontaine
J J Martin
J P Farriaux
R J Desnick
P2888
P304
P356
10.1007/BF00686161
P577
1975-12-01T00:00:00Z