Found: 16
Select item for more details and to access through your institution.
Adenotonsillar pathology in mucopolysaccharidoses – lysosomal storage predominates in paracortical CD63+ cells.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 1, p. 135, doi. 10.1007/s00428-023-03662-y
- By:
- Publication type:
- Article
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 12, p. 1210, doi. 10.3390/metabo12121210
- By:
- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease: A review.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 309, doi. 10.1002/ajmg.c.32008
- By:
- Publication type:
- Article
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 4, p. 1, doi. 10.26508/lsa.202101150
- By:
- Publication type:
- Article
Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 3, p. 241, doi. 10.3390/metabo12030241
- By:
- Publication type:
- Article
Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity.
- Published in:
- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0247227
- By:
- Publication type:
- Article
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
- Published in:
- 2021
- By:
- Publication type:
- journal article
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237
- By:
- Publication type:
- Article
Mass spectrometric analysis of purine de novo biosynthesis intermediates.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208947
- By:
- Publication type:
- Article
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201432
- By:
- Publication type:
- Article
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
- Published in:
- Rheumatology, 2018, v. 57, n. 7, p. 1180, doi. 10.1093/rheumatology/key041
- By:
- Publication type:
- Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4062, doi. 10.1093/hmg/ddw245
- By:
- Publication type:
- Article
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 299, doi. 10.1038/ng.2543
- By:
- Publication type:
- Article
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1534, doi. 10.1093/hmg/ddr591
- By:
- Publication type:
- Article
Diamond Seeding and Growth of Hierarchically Structured Films for Tissue Engineering.
- Published in:
- Advanced Engineering Materials, 2009, v. 11, n. 7, p. B71, doi. 10.1002/adem.200800384
- By:
- Publication type:
- Article
Adhesion of osteoblasts on chemically patterned nanocrystalline diamonds.
- Published in:
- Physica Status Solidi (B), 2008, v. 245, n. 10, p. 2124, doi. 10.1002/pssb.200879579
- By:
- Publication type:
- Article