Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
about
Generation and characterization of transgene-free human induced pluripotent stem cells and conversion to putative clinical-grade statusThe 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseasesHuman alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeThe molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduriaPharmacological chaperones for human -N-acetylgalactosaminidaseNature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseLysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease.Mutations in PLA2G6 and the riddle of Schindler disease.Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.
P2860
Q21999273-5F5BEBED-3FC2-40A1-949B-CE9002C4E0B6Q24336009-4686BC21-DAAC-4F6B-8E96-394BB3788E91Q24517908-8501C114-38AC-4352-B684-5F3C47B94507Q24628565-6500F7D7-7600-489A-95CC-02B99F600E15Q27674346-26809572-9AC1-4141-B6D2-81E0209156A0Q28633785-EDCCCC30-57F6-40E5-B353-65BD388D7710Q34195060-8E32FA5A-5B31-428C-ADEA-29BD4B1568CBQ41939358-43389A39-F31A-4A34-919A-D6DC8372AE56Q42605412-99F77CBC-DDA1-478D-8310-EFEE8EAECD42Q48158542-0B2F7BBC-4708-4256-B99D-E9FC7A4BF06D
P2860
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@ast
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@en
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@nl
type
label
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@ast
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@en
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@nl
prefLabel
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@ast
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@en
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@nl
P2093
P2860
P356
P1476
Schindler disease: the molecul ...... nfantile neuroaxonal dystrophy
@en
P2093
P2860
P304
P356
10.1172/JCI114901
P407
P577
1990-11-01T00:00:00Z