Search Results - "Tandem mass spectrometry"

Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives by Soler-Alfonso C, Bennett MJ, Ficicioglu C

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Follicular fluid lipidomics analysis reveals altered lipid signatures in patients with polycystic ovary syndrome by Qing He, Xiaoli Guo, Wenqiang Lv, Junchao Cui, Jing Meng, Xiao Gao, Jiachen Ma, Nan Zhou, Yijuan Cao

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A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene by Yunguo Zhou, Yunguo Zhou, Yunguo Zhou, Yucai Liu, Yang Shen, Fang Xu, Fang Xu, Fei Xu, Fei Xu, Hui Huang, Junkai Duan, Junkai Duan

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Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China by Huang Xinwen, Yang Lili, Tong Fan, Yang Rulai, Zhao Zhengyan

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Newborn Screening for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies Using Acylcarnitines Measurement in Dried Blood Spots-A System... by Chris Stinton, Hannah Fraser, Julia Geppert, Rebecca Johnson, Martin Connock, Samantha Johnson, Aileen Clarke, Sian Taylor-Phillips

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Neonatal Screening for Medium-Chain Acyl-CoA Deficiency-Insights and Unexpected Challenges by Esther M. Maier

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Newborn screening for genetic disorders: Current status and prospects for the future by Si Ding, Lianshu Han

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Determination of Diphenylamine in Gunshot Residue by HPLC-MS/MS by Hongcheng Mei, Yangke Quan, Wenhao Wang, Hong Zhou, Zhanfang Liu, Huixia Shi, Peng Wang

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Identification and characterization of phenolics and terpenoids from ethanolic extracts of Phyllanthus species by HPLC-ESI-QTOF-MS/MS by Sunil Kumar, Awantika Singh, Brijesh Kumar

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Methylmalonic Acidemia- A Rare Inborn Error of Metabolism by Charusheela Sujit Korday, Rahul Ramnath Holkar, Shruti Sudhir Jadhav, Maaz Ahmed, Sushma Malik

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Cryofibrinogen-associated glomerulonephritis diagnosed by mass spectrometry and immunoelectron microscopy by Masanori Sudo, Yuichi Sakamaki, Michihiro Hosojima, Suguru Yamamoto, Yumi Ito, Naofumi Imai, Yoshikatsu Kaneko, Shin Goto, Chih-Ping Li, Akira Shimizu, Ichiei Narita

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The modern face of newborn screening by Yin-Hsiu Chien, Wuh-Liang Hwu

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Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data by Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström

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Highly sensitive assay for the determination of therapeutic peptide desmopressin in human plasma by UPLC-MS/MS by Shiva Kumar Gudlawar, Nageswara Rao Pilli, Sridhar Siddiraju, Jaya Dwivedi

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Strategies for Developing Sensitive and Automated LC-MS/MS Assays of a Pharmaceutical Compound and Its Metabolite from Whole Blood Matrix by Raymond N. Xu, Jill Polzin, Michelle Kranz, Phillip Vaca, Maria Metchkarova, Matthew J. Rieser, Tawakol A. El-Shourbagy

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Serum Protein Profiling Reveals a Decrease in Apolipoprotein A-IV During a Clinical Depressive Mood State by Mun S, Lee S, Yun Y, Joo EJ, Kang HG, Lee J

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Current State of the Art of Newborn Screening for Lysosomal Storage Disorders by David S. Millington, Deeksha S. Bali

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Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common <i>PCCB</i> Variant by Go Tajima, Reiko Kagawa, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Miori Yuasa, Yuki Hasegawa, Hideo Sasai, Satoshi Okada

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Signal interference between drugs and metabolites in LC-ESI-MS quantitative analysis and its evaluation strategy by Fulin Jiang, Jingyu Liu, Yagang Li, Zihan Lu, Qian Liu, Yunhui Xing, Janshon Zhu, Min Huang, Guoping Zhong

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Autopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis by Felipe Lourenço Ledesma, Jussara Bianchi Castelli

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