Found: 9
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Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 11, p. 898, doi. 10.1007/s10038-007-0191-9
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- Publication type:
- Article
Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 1, p. 1, doi. 10.1007/s10038-003-0098-z
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- Publication type:
- Article
Structural basis of the GM2 gangliosidosis B variant.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 11, p. 582, doi. 10.1007/s10038-003-0082-7
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- Publication type:
- Article
Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes.
- Published in:
- Human Genetics, 2005, v. 117, n. 4, p. 317, doi. 10.1007/s00439-005-1300-5
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- Publication type:
- Article
Phospho-Pivot Modeling Predicts Specific Interactions of Protein Phosphatase-1 with a Phospho-Inhibitor Protein CPI-17.
- Published in:
- Journal of Biochemistry, 2005, v. 137, n. 5, p. 633, doi. 10.1093/jb/mvi077
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- Publication type:
- Article
Structural insight into regulation of myosin phosphatase by CPI-17.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A520, doi. 10.1096/fasebj.21.5.a520
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- Publication type:
- Article
Introduction of an N-Glycan Sequon Into HEXA Enhances Human β-Hexosaminidase Cellular Uptake in a Model of Sandhoff Disease.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 8, p. 1519, doi. 10.1038/mt.2010.113
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- Publication type:
- Article
Inhibitory effects and specificity of synthetic sialyldendrimers toward recombinant human cytosolic sialidase 2 (NEU2).
- Published in:
- Glycobiology, 2013, v. 23, n. 4, p. 495, doi. 10.1093/glycob/cws221
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- Publication type:
- Article
Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.
- Published in:
- 2021
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- Publication type:
- journal article