GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

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http://www.wikidata.org/entity/Q35534727
Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regenerationCrystal Structure of Human  -Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASESLysosomal multienzyme complex: pros and cons of working togetherCandidate molecules for chemical chaperone therapy of GM1-gangliosidosis.Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Bone mineral density in mucopolysaccharidosis IVB.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.Determination of Acid β-Galactosidase Activity: Methodology and Perspectives.β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.Age-related modulation of plasmatic beta-Galactosidase activity in healthy subjects and in patients affected by T2DM.SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.Evaluating hydrophobic galactonoamidines as transition state analogs for enzymatic β-galactoside hydrolysis.Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of GM1 Gangliosidosis.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
P2860

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Item
http://www.wikidata.org/entity/Q35534727
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2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@ast
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@en
type
label
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@ast
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@en
prefLabel
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@ast
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
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P1433
P1476
GM1 gangliosidosis and Morquio ...... rations and clinical findings.
@en
P2093
P2860
P304
P31
P356
10.1016/J.BBADIS.2011.03.018
P407
P433
P478
P50
P577
P5875
P698
P932