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Select item 80771151.

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

Maria Eleftheriadou, Evita Medici‐ van den Herik, Kyra Stuurman, Yolande van Bever, Debby M. E. I. Hellebrekers, Marjon van Slegtenhorst, George Ruijter, Tahsin Stefan Barakat

Mol Genet Genomic Med. 2021 Feb; 9(2): e1595. Published online 2021 Jan 11. doi: 10.1002/mgg3.1595

PMCID:: PMC8077115

Abstract Article PDF–822K

Select item 84541302.

Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8

Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang, Fan Tong

Orphanet J Rare Dis. 2021; 16: 392. Published online 2021 Sep 20. doi: 10.1186/s13023-021-02018-6

Correction in:: Orphanet J Rare Dis. 2021; 16: 505.

PMCID:: PMC8454130

Abstract Article PDF–1.3M

Select item 51987373.

Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia

S. Santra, A. Macdonald, M.A. Preece, R.K. Olsen, B.S. Andresen

Mol Genet Metab Rep. 2017 Mar; 10: 28–30. Published online 2016 Dec 22. doi: 10.1016/j.ymgmr.2016.11.005

PMCID:: PMC5198737

Abstract Article PDF–193K

Select item 86398644.

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

Wei Zhou, Heng Cai, Huizhong Li, Zhe Ji, Maosheng Gu

Front Pediatr. 2021; 9: 757424. Published online 2021 Nov 19. doi: 10.3389/fped.2021.757424

PMCID:: PMC8639864

Abstract Article PDF–2.1M

Select item 63222975.

A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism

Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram

BMC Med Genet. 2019; 20: 3. Published online 2019 Jan 6. doi: 10.1186/s12881-018-0731-5

PMCID:: PMC6322297

Abstract Article PDF–2.9M

Select item 85168776.

Transplantation of fecal microbiota from patients with inflammatory bowel disease and depression alters immune response and behavior in recipient mice

Hyo-Min Jang, Jeon-Kyung Kim, Min-Kyung Joo, Yoon-Jung Shin, Chang Kyun Lee, Hyo-Jong Kim, Dong-Hyun Kim

Sci Rep. 2021; 11: 20406. Published online 2021 Oct 14. doi: 10.1038/s41598-021-00088-x

PMCID:: PMC8516877

Abstract Article PDF–8.6M

Select item 68289607.

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Ting Wang, Jun Ma, Qin Zhang, Ang Gao, Qi Wang, Hong Li, Jingjing Xiang, Benjing Wang

Front Genet. 2019; 10: 1052. Published online 2019 Oct 29. doi: 10.3389/fgene.2019.01052

PMCID:: PMC6828960

Abstract Article PDF–2.1M

Select item 41364128.

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

Ina Knerr, Natalie Weinhold, Jerry Vockley, K. Michael Gibson

J Inherit Metab Dis. Author manuscript; available in PMC 2014 Aug 18.

Published in final edited form as: J Inherit Metab Dis. 2012 Jan; 35(1): 29–40. Published online 2011 Feb 3. doi: 10.1007/s10545-010-9269-1

PMCID:: PMC4136412

Abstract Article PDF–370K

Select item 88317549.

Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing

Dan-Yan Zhuang, Shu-Xia Ding, Fei Wang, Xiang-Chun Yang, Xiao-Li Pan, You-Wei Bao, Li-ming Zhou, Hai-bo Li

Front Genet. 2021; 12: 791869. Published online 2022 Jan 28. doi: 10.3389/fgene.2021.791869

PMCID:: PMC8831754

Abstract Article PDF–854K

Select item 914707910.

The Alleviation of Gut Microbiota-Induced Depression and Colitis in Mice by Anti-Inflammatory Probiotics NK151, NK173, and NK175

Jong-Wook Yoo, Yoon-Jung Shin, Xiaoyang Ma, Young-Hoo Son, Hyo-Min Jang, Chang Kyun Lee, Dong-Hyun Kim

Nutrients. 2022 May; 14(10): 2080. Published online 2022 May 16. doi: 10.3390/nu14102080

PMCID:: PMC9147079

Abstract Article PDF–3.7M

Select item 917418311.

Enterococcus faecium and Pediococcus acidilactici deteriorate Enterobacteriaceae-induced depression and colitis in mice

Hyo-Min Jang, Jeon-Kyung Kim, Min-Kyung Joo, Yoon-Jung Shin, Kyung-Eon Lee, Chang Kyun Lee, Hyo-Jong Kim, Dong-Hyun Kim

Sci Rep. 2022; 12: 9389. Published online 2022 Jun 7. doi: 10.1038/s41598-022-13629-9

Correction in:: Sci Rep. 2023; 13: 12997.

PMCID:: PMC9174183

Abstract Article PDF–5.5M

Select item 925940012.

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

Albina Tummolo, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo, Francesca Romana Lepri, Tania Lorè, Roberta Cardinali, Donatella De Giovanni, Simonetta Simonetti, Maria Barile

JIMD Rep. 2022 Jul; 63(4): 276–291. Published online 2022 May 7. doi: 10.1002/jmd2.12292

PMCID:: PMC9259400

Abstract Article PDF–1.8M

Select item 1068744113.

Bacteroides vulgatus alleviates dextran sodium sulfate-induced colitis and depression-like behaviour by facilitating gut-brain axis balance

Xing Wu, Jiahao Xu, Jingbo Li, Minzi Deng, Zhaohua Shen, Kai Nie, Weiwei Luo, Chao Zhang, Kejia Ma, Xuejie Chen, Xiaoyan Wang

Front Microbiol. 2023; 14: 1287271. Published online 2023 Nov 16. doi: 10.3389/fmicb.2023.1287271

PMCID:: PMC10687441

Abstract Article PDF–8.2M

Select item 500937014.

Quantitative Acylcarnitine Determination by UHPLC-MS/MS – Going Beyond Tandem MS Acylcarnitine “Profiles”

Paul E. Minkler, Maria S.K. Stoll, Stephen T. Ingalls, Janos Kerner, Charles L. Hoppel

Mol Genet Metab. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Mol Genet Metab. 2015 Dec; 116(4): 231–241. Published online 2015 Oct 8. doi: 10.1016/j.ymgme.2015.10.002

PMCID:: PMC5009370

Abstract Article PDF–1.5M

Select item 1074159415.

Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios

MariaAnna Messina, Alessia Arena, Riccardo Iacobacci, Luisa La Spina, Concetta Meli, Federica Raudino, Martino Ruggieri

Biomedicines. 2023 Dec; 11(12): 3247. Published online 2023 Dec 7. doi: 10.3390/biomedicines11123247

PMCID:: PMC10741594

Abstract Article PDF–645K

Select item 1038183716.

The Occurrence of Gluten-Related Antibodies, Sensitization to Selected Food Allergens, and Antibodies against Intrinsic Factor in Adult Patients with Diarrhea-Predominant Irritable Bowel Syndrome

Joanna B. Bierła, Bożena Cukrowska, Barbara Skrzydło-Radomańska, Beata Prozorow-Król, Anetta Kurzeja-Mirosław, Halina Cichoż-Lach, Katarzyna Laskowska, Agnieszka Sowińska, Emilia Majsiak

J Pers Med. 2023 Jul; 13(7): 1165. Published online 2023 Jul 20. doi: 10.3390/jpm13071165

PMCID:: PMC10381837

Abstract Article PDF–298K

Select item 372732017.

BRCA1 interacts with Nrf2 to regulate antioxidant signaling and cell survival

Chiara Gorrini, Pegah S. Baniasadi, Isaac S. Harris, Jennifer Silvester, Satoshi Inoue, Bryan Snow, Purna A. Joshi, Andrew Wakeham, Sam D. Molyneux, Bernard Martin, Peter Bouwman, David W. Cescon, Andrew J. Elia, Zoe Winterton-Perks, Jennifer Cruickshank, Dirk Brenner, Alan Tseng, Melinda Musgrave, Hal K. Berman, Rama Khokha, Jos Jonkers, Tak W. Mak, Mona L. Gauthier

J Exp Med. 2013 Jul 29; 210(8): 1529–1544. doi: 10.1084/jem.20121337