Found: 22
Select item for more details and to access through your institution.
β-hexosaminidase immunolocalization and α- and β-subunit gene expression in the rat testis and epididymis.
- Published in:
- Molecular Reproduction & Development, 1997, v. 46, n. 3, p. 227, doi. 10.1002/(SICI)1098-2795(199703)46:3<227::AID-MRD1>3.0.CO;2-R
- By:
- Publication type:
- Article
Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
- Published in:
- Nature Genetics, 2006, v. 38, n. 1, p. 93, doi. 10.1038/ng1683
- By:
- Publication type:
- Article
Biotin-dependent Carboxylase Deficiencies (Propionyl-CoA and Pyruvate Carboxylases)<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 447, n. 1, p. 225, doi. 10.1111/j.1749-6632.1985.tb18441.x
- By:
- Publication type:
- Article
Choline-O-sulphate utilization in Aspergillus nidulans.
- Published in:
- Genetics Research, 1976, v. 28, n. 3, p. 261, doi. 10.1017/S0016672300016955
- By:
- Publication type:
- Article
Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B<sub>12</sub> Metabolism.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 317, doi. 10.1002/humu.20149
- By:
- Publication type:
- Article
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B<sub>12</sub> metabolism.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 509, doi. 10.1002/humu.20104
- By:
- Publication type:
- Article
Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 11, p. 1556, doi. 10.1093/hmg/ddn043
- By:
- Publication type:
- Article
Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 1, p. 15
- By:
- Publication type:
- Article
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3361, doi. 10.1093/hmg/11.26.3361
- By:
- Publication type:
- Article
Nonenzymatic biotinylation of histone H2A.
- Published in:
- Protein Science: A Publication of the Protein Society, 2009, v. 18, n. 2, p. 314, doi. 10.1002/pro.37
- By:
- Publication type:
- Article
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
- Published in:
- Human Mutation, 1999, v. 14, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N
- By:
- Publication type:
- Article
Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 298, doi. 10.1002/humu.1380010406
- By:
- Publication type:
- Article
Sialidase-mediated depletion of G[sub m2] ganglioside in Tay-Sachs neuroglia cells.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1111, doi. 10.1093/hmg/8.6.1111
- By:
- Publication type:
- Article
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 107, doi. 10.1093/hmg/8.1.107
- By:
- Publication type:
- Article
Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 1, p. 115, doi. 10.1093/hmg/7.1.115
- By:
- Publication type:
- Article
Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1879, doi. 10.1093/hmg/6.11.1879
- By:
- Publication type:
- Article
Clustering of Mutations in the Biotin-Binding Region of Holocarboxylase Synthetase in Biotin-Responsive Multiple Carboxylase Deficiency.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1011, doi. 10.1093/hmg/5.7.1011
- By:
- Publication type:
- Article
Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 1, p. 1, doi. 10.1093/hmg/5.1.1
- By:
- Publication type:
- Article
Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1035
- By:
- Publication type:
- Article
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 777
- By:
- Publication type:
- Article
Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 1, p. 139
- By:
- Publication type:
- Article