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Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 13, p. 1765, doi. 10.3390/cells12131765
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- Publication type:
- Article
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869031
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- Publication type:
- Article
Readily Accessible Bicyclononynes for Bioorthogonal Labeling and Three-Dimensional Imaging of Living Cells.
- Published in:
- Angewandte Chemie International Edition, 2010, v. 49, n. 49, p. 9422, doi. 10.1002/anie.201003761
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- Publication type:
- Article
A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac<sub>3</sub>).
- Published in:
- FASEB Journal, 2015, v. 29, n. 7, p. 2993, doi. 10.1096/fj.14-264226
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- Publication type:
- Article
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
- Published in:
- 2013
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- Publication type:
- journal article
Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2241, doi. 10.1093/hmg/ddu742
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- Publication type:
- Article
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
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- Publication type:
- Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
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- Publication type:
- Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
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- Publication type:
- Article
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 8, p. 1626, doi. 10.1515/cclm-2023-1189
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- Publication type:
- Article
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257
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- Publication type:
- Article
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8632, doi. 10.3390/ijms24108632
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- Publication type:
- Article
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8247, doi. 10.3390/ijms24098247
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- Publication type:
- Article
The GlycoPaSER Prototype as a Real-Time N-Glycopeptide Identification Tool Based on the PaSER Parallel Computing Platform.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7869, doi. 10.3390/ijms24097869
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- Publication type:
- Article
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1937, doi. 10.3390/ijms24031937
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- Publication type:
- Article
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7635, doi. 10.3390/ijms21207635
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- Publication type:
- Article
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4654, doi. 10.3390/ijms21134654
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- Publication type:
- Article
Normal glycosylation screening does not rule out SRD5A3-CDG.
- Published in:
- 2011
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- Publication type:
- Letter
Reply to Leao-Teles et al.
- Published in:
- 2010
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- Publication type:
- Letter
Autosomal recessive cutis laxa syndrome revisited.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1099, doi. 10.1038/ejhg.2009.22
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- Publication type:
- Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
- Published in:
- 2007
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- Publication type:
- Correction notice
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813
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- Publication type:
- Article
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
- Published in:
- Molecular Vision, 2022, v. 28, p. 536
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- Publication type:
- Article
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002427
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- Publication type:
- Article
Cellular Fucosylation Inhibitors Based on Fluorinated Fucose‐1‐phosphates**.
- Published in:
- Chemistry - A European Journal, 2021, v. 27, n. 12, p. 4022, doi. 10.1002/chem.202005359
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- Publication type:
- Article
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
- Published in:
- Glycobiology, 2022, v. 39, n. 3, p. 239, doi. 10.1093/glycob/cwab106
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- Publication type:
- Article
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
- Published in:
- Glycobiology, 2005, v. 15, n. 12, p. 1312, doi. 10.1093/glycob/cwj017
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- Publication type:
- Article
Wrinkled Skin and Fat Pads in Patients with ALG8-CDG: Revisiting Skin Manifestations in Congenital Disorders of Glycosylation.
- Published in:
- Pediatric Dermatology, 2014, v. 31, n. 1, p. e1, doi. 10.1111/pde.12233
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- Publication type:
- Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
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- Publication type:
- Article
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 11, p. 5056, doi. 10.1210/jc.2018-02795
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- Publication type:
- Article
Readily Accessible Bicyclononynes for Bioorthogonal Labeling and Three-Dimensional Imaging of Living Cells.
- Published in:
- Angewandte Chemie, 2010, v. 122, n. 49, p. 9612, doi. 10.1002/ange.201003761
- By:
- Publication type:
- Article
Synthesis of Fragments of the Glycocalyx Glycan of the Parasite Schistosoma mansoni.
- Published in:
- Chemistry - A European Journal, 2002, v. 8, n. 1, p. 151, doi. 10.1002/1521-3765(20020104)8:1<151::AID-CHEM151>3.0.CO;2-C
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- Publication type:
- Article
Synthesis of Streptococcus pneumoniae Type 3 Neoglycoproteins Varying in Oligosaccharide Chain Length, Loading and Carrier Protein.
- Published in:
- Chemistry - A European Journal, 2001, v. 7, n. 20, p. 4411, doi. 10.1002/1521-3765(20011015)7:20<4411::aid-chem4411>3.3.co;2-k
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- Publication type:
- Article
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.
- Published in:
- Scientific Reports, 2017, p. 44556, doi. 10.1038/srep44556
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- Publication type:
- Article
CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29473-4
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- Publication type:
- Article
Fluorinated rhamnosides inhibit cellular fucosylation.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27355-9
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- Publication type:
- Article
ALG8-CDG: novel patients and review of the literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0289-7
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- Publication type:
- Article
ALG8-CDG: novel patients and review of the literature.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0155-z
- By:
- Publication type:
- Article
Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 956, doi. 10.1002/jimd.12643
- By:
- Publication type:
- Article
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 66, doi. 10.1002/jimd.12554
- By:
- Publication type:
- Article
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 748, doi. 10.1002/jimd.12512
- By:
- Publication type:
- Article
Congenital disorders of glycosylation with defective fucosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
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- Publication type:
- Article
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1310, doi. 10.1002/jimd.12273
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- Publication type:
- Article
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 994, doi. 10.1002/jimd.12265
- By:
- Publication type:
- Article
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 611, doi. 10.1002/jimd.12200
- By:
- Publication type:
- Article
Toward understanding tissue‐specific symptoms in dolichol‐phosphate‐mannose synthesis disorders; insight from DPM3‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 984, doi. 10.1002/jimd.12095
- By:
- Publication type:
- Article
Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 499, doi. 10.1007/s10545-018-0144-9
- By:
- Publication type:
- Article
B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
- By:
- Publication type:
- Article
Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC‐derived excitatory neurons.
- Published in:
- Journal of Neurochemistry, 2023, v. 167, n. 1, p. 76, doi. 10.1111/jnc.15934
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- Publication type:
- Article