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Incorporating Next‐Generation Sequencing as a Second‐Tier Test for Primary Carnitine Deficiency.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70003
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- Publication type:
- Article
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1301
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- Publication type:
- Article
Developing Effective Separation of Feldspar and Quartz While Recycling Tailwater by HF Pretreatment.
- Published in:
- Minerals (2075-163X), 2018, v. 8, n. 4, p. 149, doi. 10.3390/min8040149
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- Publication type:
- Article
Impact of Phosphorus-Based Food Additives on Bone and Mineral Metabolism.
- Published in:
- 2015
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- Publication type:
- journal article
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the <italic>MMAA</italic> gene in two Chinese siblings.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0635-4
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- Publication type:
- Article
A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-017-0517-1
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- Publication type:
- Article
High irradiance laser ionization orthogonal time‐of‐flight mass spectrometry: A versatile tool for solid analysis.
- Published in:
- Mass Spectrometry Reviews, 2011, v. 30, n. 6, p. 1256, doi. 10.1002/mas.20331
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- Publication type:
- Article
Effect of CeO 2 Content on Microstructure and Wear Resistance of Laser-Cladded Ni-Based Composite Coating.
- Published in:
- Lubricants (2075-4442), 2024, v. 12, n. 6, p. 227, doi. 10.3390/lubricants12060227
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- Publication type:
- Article
Circulating miRNAs as Novel Diagnostic Biomarkers in Nonalcoholic Fatty Liver Disease: A Systematic Review and Meta-Analysis.
- Published in:
- Canadian Journal of Gastroenterology & Hepatology, 2019, p. 1, doi. 10.1155/2019/2096161
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- Publication type:
- Article
Probiotic supplementation does not improve eradication rate of Helicobacter pylori infection compared to placebo based on standard therapy: a meta-analysis.
- Published in:
- Scientific Reports, 2016, p. 23522, doi. 10.1038/srep23522
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- Publication type:
- Article
Association between 25(OH)D Level, Ultraviolet Exposure, Geographical Location, and Inflammatory Bowel Disease Activity: A Systematic Review and Meta-Analysis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132036
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- Publication type:
- Article
Mitochondrial Dysfunction and Adipogenic Reduction by Prohibitin Silencing in 3T3-L1 Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034315
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- Publication type:
- Article
A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01098-4
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- Publication type:
- Article
TRPV1<sup>+</sup> neurons alter Staphylococcus aureus skin infection outcomes by affecting macrophage polarization and neutrophil recruitment.
- Published in:
- BMC Immunology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12865-023-00584-x
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- Publication type:
- Article
Efficient-Unet: Intelligent identification of abrasive grain on the entire surface of monolayer brazing wheel based on encoder–decoder network.
- Published in:
- International Journal of Advanced Manufacturing Technology, 2024, v. 131, n. 12, p. 6027, doi. 10.1007/s00170-024-13305-4
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- Publication type:
- Article
Dimeric Diterpenes from the Roots of the Mangrove Plant Ceriops tagal.
- Published in:
- Helvetica Chimica Acta, 2008, v. 91, n. 12, p. 2292, doi. 10.1002/hlca.200890249
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- Publication type:
- Article
Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening.
- Published in:
- Journal of Medical Screening, 2021, v. 28, n. 2, p. 93, doi. 10.1177/0969141320937725
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- Publication type:
- Article
AirLens: Multi‐Level Visual Exploration of Air Quality Evolution in Urban Agglomerations.
- Published in:
- Computer Graphics Forum, 2022, v. 41, n. 3, p. 223, doi. 10.1111/cgf.14535
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- Publication type:
- Article
Resolved Chronic Non-Healing Ulcer After Distal Radius Giant Cell Tumor Resection: Nursing Experience and Wound Care.
- Published in:
- 2024
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- Publication type:
- Case Study
Diagnosis of Coxiella burnetii Prosthetic Joint Infection Using mNGS and ptNGS: A Case Report and Literature Review.
- Published in:
- Orthopaedic Surgery, 2023, v. 15, n. 1, p. 371, doi. 10.1111/os.13600
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- Publication type:
- Article
Clinical Outcomes of Culture‐Negative and Culture‐Positive Periprosthetic Joint Infection: Similar Success Rate, Different Incidence of Complications.
- Published in:
- Orthopaedic Surgery, 2022, v. 14, n. 7, p. 1420, doi. 10.1111/os.13333
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- Publication type:
- Article
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0461-1
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- Publication type:
- Article
Newborn screening for primary carnitine deficiency using a second-tier genetic test.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 2, p. 163, doi. 10.1515/jpem-2023-0513
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- Publication type:
- Article
Newborn screening for inborn errors of metabolism in a northern Chinese population.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 3, p. 278, doi. 10.1515/jpem-2022-0543
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- Publication type:
- Article
Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 649, doi. 10.1515/jpem-2020-0694
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- Publication type:
- Article
Interleukin-1 β-induced Id2 gene expression is mediated by Egr-1 in vascular smooth muscle cells
- Published in:
- Cardiovascular Research, 2007, v. 76, n. 1, p. 141, doi. 10.1016/j.cardiores.2007.06.015
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- Publication type:
- Article
Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01080-4
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- Publication type:
- Article
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0836-5
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- Publication type:
- Article
3‐Mercaptopyruvate sulfurtransferase represses tumour progression and predicts prognosis in hepatocellular carcinoma.
- Published in:
- Liver International, 2022, v. 42, n. 5, p. 1173, doi. 10.1111/liv.15228
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- Publication type:
- Article
A transcriptomic analysis of incisional hernia based on high-throughput sequencing technology.
- Published in:
- Hernia, 2024, v. 28, n. 5, p. 1899, doi. 10.1007/s10029-024-03116-7
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- Publication type:
- Article
Real-Time Detection and Counting of Wheat Spikes Based on Improved YOLOv10.
- Published in:
- Agronomy, 2024, v. 14, n. 9, p. 1936, doi. 10.3390/agronomy14091936
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- Publication type:
- Article
A Cytochrome B<sub>5</sub>-Like Heme/Steroid Binding Domain Protein, PlCB5L1, Regulates Mycelial Growth, Pathogenicity and Oxidative Stress Tolerance in Peronophythora litchii.
- Published in:
- Frontiers in Plant Science, 2021, v. 12, p. 1, doi. 10.3389/fpls.2021.783438
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- Publication type:
- Article
Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01255
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- Publication type:
- Article
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00802
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- Publication type:
- Article
Overproduced bone marrow neutrophils in collagen‐induced arthritis are primed for NETosis: An ignored pathological cell involving inflammatory arthritis.
- Published in:
- Cell Proliferation, 2020, v. 53, n. 7, p. 1, doi. 10.1111/cpr.12824
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- Publication type:
- Article
A Novel Infrapatellar Fat Pad Preservation Technique in Total Knee Arthroplasty Reduced Postoperative Pain and Wound Complications.
- Published in:
- Orthopaedic Surgery, 2024, v. 16, n. 8, p. 1946, doi. 10.1111/os.14137
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- Publication type:
- Article
Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
- Published in:
- 2022
- By:
- Publication type:
- corrected article
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Fatty acid binding protein 4 (FABP4) induces chondrocyte degeneration via activation of the NF‐κb signaling pathway.
- Published in:
- FASEB Journal, 2024, v. 38, n. 1, p. 1, doi. 10.1096/fj.202301882R
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- Publication type:
- Article
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 467, doi. 10.1002/jimd.12206
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- Publication type:
- Article
Low‐crystallinity to highly amorphous copolyesters with high glass transition temperatures based on rigid carbohydrate‐derived building blocks.
- Published in:
- Polymer International, 2021, v. 70, n. 5, p. 536, doi. 10.1002/pi.6123
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- Publication type:
- Article
Removal of humic substances from landfill leachate by Fenton oxidation and coagulation.
- Published in:
- Process Safety & Environmental Protection: Transactions of the Institution of Chemical Engineers Part B, 2010, v. 88, n. 4, p. 276, doi. 10.1016/j.psep.2010.03.002
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- Publication type:
- Article
AirInsight: Visual Exploration and Interpretation of Latent Patterns and Anomalies in Air Quality Data.
- Published in:
- Sustainability (2071-1050), 2019, v. 11, n. 10, p. 2944, doi. 10.3390/su11102944
- By:
- Publication type:
- Article
Inorganic phosphate induces cancer cell mediated angiogenesis dependent on forkhead box protein C2 (FOXC2) regulated osteopontin expression.
- Published in:
- Molecular Carcinogenesis, 2015, v. 54, n. 9, p. 926, doi. 10.1002/mc.22153
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- Publication type:
- Article
An integrated understanding of the physiological response to elevated extracellular phosphate.
- Published in:
- Journal of Cellular Physiology, 2013, v. 228, n. 7, p. 1536, doi. 10.1002/jcp.24312
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- Publication type:
- Article
Effects of pulse parameters on electrochemical polishing of TC4 titanium alloy.
- Published in:
- Electroplating & Finishing, 2023, v. 42, n. 7, p. 55, doi. 10.19289/j.1004-227x.2023.07.009
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- Publication type:
- Article
Characterization of the Ang/Tie2 Signaling Pathway in the Diaphragm Muscle of DMD Mice.
- Published in:
- Biomedicines, 2023, v. 11, n. 8, p. 2265, doi. 10.3390/biomedicines11082265
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- Publication type:
- Article