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Select item 109714321.

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang

Int J Neonatal Screen. 2024 Mar; 10(1): 19. Published online 2024 Mar 5. doi: 10.3390/ijns10010019

PMCID:: PMC10971432

Article PDF–380K

Select item 109708892.

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey

Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung

Int J Neonatal Screen. 2024 Mar; 10(1): 23. Published online 2024 Mar 11. doi: 10.3390/ijns10010023

PMCID:: PMC10970889

Article PDF–912K

Select item 108569873.

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

Paula Sánchez-Pintos, María José Camba-Garea, Beatriz Martin López-Pardo, María L. Couce

Nutrients. 2024 Feb; 16(3): 423. Published online 2024 Jan 31. doi: 10.3390/nu16030423

PMCID:: PMC10856987

Article PDF–857K

Select item 108177454.

甘肃地区遗传代谢病疾病谱及致病基因分析

张钏, 惠玲, 周秉博, 郑雷, 王玉佩, 郝胜菊, 达振强, 马莹, 郭金仙, 曹宗富, 马旭

Zhongguo Dang Dai Er Ke Za Zhi. 2024 Jan 15; 26(1): 67–71. Chinese. doi: 10.7499/j.issn.1008-8830.2308094

PMCID:: PMC10817745

Article PDF–541K

Select item 108114605.

Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol

Gulmira Zharmakhanova, Victoria Kononets, Saule Balmagambetova, Lyazzat Syrlybayeva, Eleonora Nurbaulina, Zhanna Zhussupova, Svetlana Sakhanova, Dinmukhamed Ayaganov, Svetlana Kim, Akmaral Zhumalina

Front Genet. 2023; 14: 1278750. Published online 2024 Jan 12. doi: 10.3389/fgene.2023.1278750

PMCID:: PMC10811460

Article PDF–1.1M

Select item 107674616.

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

Anisha Verma, April N. Lehman, Hatice Gokcan, Lorna Cropcho, Danielle Black, Steven F. Dobrowolski, Jerry Vockley, Jirair K. Bedoyan

Mol Genet Genomic Med. 2024 Jan; 12(1): e2283. Published online 2023 Sep 8. doi: 10.1002/mgg3.2283

PMCID:: PMC10767461

Article PDF–5.9M

Select item 107625967.

Warburg effect mimicking inborn errors of metabolism in childhood hematologic malignancies: A case-based systematic review

Khanittha Permtawee, Maliwan Tengsujaritkul, Chane Choed-Amphai, Supapitch Chanthong, Kanittha Mankhemthong, Lalita Sathitsamitphong, Rungrote Natesirinilkul, Pimlak Charoenkwan

World J Clin Pediatr. 2023 Dec 9; 12(5): 350–358. Published online 2023 Dec 9. doi: 10.5409/wjcp.v12.i5.350

PMCID:: PMC10762596

Article PDF–468K

Select item 107600378.

An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism

Ling Cai, Hieu S Vu, Wen Gu, Hongli Chen, Jordan Franklin, Lea Abou Haidar, Zheng Wu, Chunxiao Pan, Feng Cai, Phong Nguyen, Bookyung Ko, Chendong Yang, Lauren G. Zacharias, Jessica Sudderth, Sarah Montgomery, Crescenda Uhles, Heather Fisher, Julianna Hudnall, Callie Hornbuckle, Christine Quinn, Donnice Michel, Luis Umaña, Angela Scheuerle, Markey C. McNutt, Garrett K. Gotway, Bushra Afroze, Min Ni, Ralph DeBerardinis

Version 1. bioRxiv. Preprint. 2023 Dec 12. doi: 10.1101/2023.12.11.571124

PMCID:: PMC10760037

Article

Select item 107416109.

Parents’ Perceptions Regarding Their Children’s Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

Tanjana Harings, Martina Patrizia Neininger, Simone Eisenhofer, Alena Gerlinde Thiele, Wieland Kiess, Astrid Bertsche, Skadi Beblo, Thilo Bertsche

Children (Basel) 2023 Dec; 10(12): 1873. Published online 2023 Nov 29. doi: 10.3390/children10121873

PMCID:: PMC10741610

Article PDF–683K

Select item 1071947110.

Dose selection for biological enzyme replacement therapy indicated for inborn errors of metabolism

Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang

Clin Transl Sci. 2023 Dec; 16(12): 2438–2457. Published online 2023 Oct 13. doi: 10.1111/cts.13652

PMCID:: PMC10719471

Article PDF–315K

Select item 1069543411.

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype

T. COSTE, C. ALOUI, F. PETIT, S. MOUTTON, L. DEVISME, C. F. WELLS, N. LEBOUCQ, P. VERPILLAT, M. YVERT, F. RIVIER, E. TOURNIER-LASSERVE

Ultrasound Obstet Gynecol. Author manuscript; available in PMC 2023 Dec 4.

Published in final edited form as: Ultrasound Obstet Gynecol. 2022 Dec; 60(6): 805–811. doi: 10.1002/uog.26046

PMCID:: PMC10695434

Article PDF–989K

Select item 1055802612.

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Juan Darío Ortigoza-Escobar

Tremor Other Hyperkinet Mov (N Y) 2023; 13: 36. Published online 2023 Oct 6. doi: 10.5334/tohm.801

PMCID:: PMC10558026

Article PDF–1.5M

Select item 1052754813.

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

Tatiana Bremova-Ertl, Jan Hofmann, Janine Stucki, Anja Vossenkaul, Matthias Gautschi

Cells. 2023 Sep; 12(18): 2314. Published online 2023 Sep 19. doi: 10.3390/cells12182314

PMCID:: PMC10527548

Article PDF–552K

Select item 1045297414.

A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns

Takanori Onuki, Shota Hiroshima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Keisuke Nagasaki, Hiromi Nyuzuki

Children (Basel) 2023 Aug; 10(8): 1341. Published online 2023 Aug 3. doi: 10.3390/children10081341

PMCID:: PMC10452974

Article PDF–401K

Select item 1044114015.

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening

Oğuzhan Tin, Tanyel Zübarioğlu, Mehmet Şerif Cansever, Ertuğrul Kıykım, Çiğdem Aktuğlu-Zeybek

Turk Arch Pediatr. 2023 Jul; 58(4): 382–387. Published online 2023 Jul 1. doi: 10.5152/TurkArchPediatr.2023.23009

PMCID:: PMC10441140

Article PDF–378K

Select item 1032417016.

Out-of-pocket health expenditures in patients living with ınborn errors of metabolism

Mehmet Gündüz, Yasemin Yüksel Güdek, Çiğdem Seher Kasapkara

Orphanet J Rare Dis. 2023; 18: 179. Published online 2023 Jul 6. doi: 10.1186/s13023-023-02775-6

PMCID:: PMC10324170

Article PDF–789K

Select item 1032386817.

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism

Rianne E. van Outersterp, Pieter C. Kooijman, Jona Merx, Udo F.H. Engelke, Nematollah Omidikia, Mei-Lan H. Tonneijck, Kas J. Houthuijs, Giel Berden, Tessa M.A. Peters, Dirk J. Lefeber, Michel A. A. P. Willemsen, Jasmin Mecinovic, Jeroen J. Jansen, Karlien L.M. Coene, Ron A. Wevers, Thomas J. Boltje, Jos Oomens, Jonathan Martens

Anal Chem. 2023 Jul 4; 95(26): 9787–9796. Published online 2023 Jun 21. doi: 10.1021/acs.analchem.3c00363

PMCID:: PMC10323868

Article PDF–3.8M

Select item 1029378118.

遗传性代谢缺陷所致肾结石研究进展

宋远明, 赵长永, 李道兵

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Apr 25; 52(2): 169–177. Chinese. doi: 10.3724/zdxbyxb-2022-0698

PMCID:: PMC10293781

Article PDF–658K

Select item 1026507119.

Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China

Shuai Men, Shuang Liu, Qin Zheng, Shuting Yang, Huafen Mao, Zhiwei Wang, Ying Gu, Xinxin Tang, Leilei Wang

Mol Genet Genomic Med. 2023 Jun; 11(6): e2152. Published online 2023 Feb 14. doi: 10.1002/mgg3.2152

PMCID:: PMC10265071

Article PDF–1.4M

Select item 1026258720.

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes

Yongchao Guo, Jianhui Jiang, Zhongyao Xu

Orphanet J Rare Dis. 2023; 18: 148. Published online 2023 Jun 12. doi: 10.1186/s13023-023-02726-1

PMCID:: PMC10262587

Article PDF–1.4M

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