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Select item 109731941.

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis

Tanguy Demaret, Jean-Sébastien Joyal, Aspasia Karalis, Fabienne Parente, Marie-Ange Delrue, Grant A. Mitchell

Mol Genet Metab Rep. 2024 Jun; 39: 101073. Published online 2024 Mar 21. doi: 10.1016/j.ymgmr.2024.101073

PMCID:: PMC10973194

Abstract Article PDF–2.7M

Select item 101203382.

罕见病研究：HLCS基因突变致全羧化酶合成酶缺乏症

李珂瑶, 汤建萍, 蒋艳玲, 岳淑珍, 周斌, 文容, 周泽韬, 韦祝

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15; 25(4): 401–407. Chinese. doi: 10.7499/j.issn.1008-8830.2211062

PMCID:: PMC10120338

Abstract Article PDF–1.0M

Select item 99970243.

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lianshu Han

Orphanet J Rare Dis. 2023; 18: 48. Published online 2023 Mar 8. doi: 10.1186/s13023-023-02656-y

PMCID:: PMC9997024

Abstract Article PDF–808K

Select item 95633244.

Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency

Miyu Meguro, Yoichi Wada, Yurina Kisou, Chihiro Sugawara, Yoshihiro Akimoto, Shigeo Kure

Mol Genet Metab Rep. 2022 Dec; 33: 100923. Published online 2022 Oct 10. doi: 10.1016/j.ymgmr.2022.100923

PMCID:: PMC9563324

Abstract Article PDF–407K

Select item 74403565.

Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients

Zihong Xiong, Guoying Zhang, Xiaoli Luo, Ning Zhang, Jing Zheng

Medicine (Baltimore) 2020 May; 99(18): e19964. Published online 2020 May 1. doi: 10.1097/MD.0000000000019964

PMCID:: PMC7440356

Abstract Article PDF–151K

Select item 73882156.

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu, Qingliu Fu

BMC Med Genet. 2020; 21: 155. Published online 2020 Jul 29. doi: 10.1186/s12881-020-01080-4

PMCID:: PMC7388215

Abstract Article PDF–1.0M

Select item 55095487.

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency

Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan

JIMD Rep. 2017; 34: 55–61. Published online 2016 Aug 13. doi: 10.1007/8904_2016_9

PMCID:: PMC5509548

Abstract Article PDF–244K

Select item 48320868.

Holocarboxylase synthetase deficiency pre and post newborn screening

Taraka R. Donti, Patrick R. Blackburn, Paldeep S. Atwal

Mol Genet Metab Rep. 2016 Jun; 7: 40–44. Published online 2016 Apr 6. doi: 10.1016/j.ymgmr.2016.03.007

PMCID:: PMC4832086

Abstract Article PDF–306K

Select item 43751219.

Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

Mauricio De Castro, Dina J. Zand, Uta Lichter-Konecki, Brian Kirmse

JIMD Rep. 2015; 20: 1–4. Published online 2015 Feb 18. doi: 10.1007/8904_2014_367

PMCID:: PMC4375121

Abstract Article PDF–106K

Select item 389779110.

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

T. P. Slavin, S. J. Zaidi, C. Neal, B. Nishikawa, L. H. Seaver

JIMD Rep. 2014; 12: 109–114. Published online 2013 Sep 13. doi: 10.1007/8904_2013_252

PMCID:: PMC3897791

Abstract Article PDF–243K

Select item 263016611.

MANAGEMENT OF A PATIENT WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Johan LK Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A. Thomas, Le Phuc Thuy, Bruce A. Barshop, Michael Woontner, Donald M Mock, Pei-Wen Chiang, Elaine Spector, Iván Meneses-Morales, Rafael Cervantes-Roldán, Alfonso León-Del-Río

Mol Genet Metab. Author manuscript; available in PMC 2009 Dec 1.

Published in final edited form as: Mol Genet Metab. 2008 Dec; 95(4): 201–205. Published online 2008 Oct 29. doi: 10.1016/j.ymgme.2008.09.006

PMCID:: PMC2630166

Abstract Article PDF–459K

Select item 910976212.

多羧化酶缺乏症筛诊治专家共识

Jing SHAO

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Feb; 51(1): 129–135. Chinese. doi: 10.3724/zdxbyxb-2022-0164

PMCID:: PMC9109762

Abstract Article PDF–2.4M

Select item 15100713.

Biotin dependency due to a defect in biotin transport

Rebecca Mardach, Janos Zempleni, Barry Wolf, Martin J. Cannon, Michael L. Jennings, Sally Cress, Jane Boylan, Susan Roth, Stephen Cederbaum, Donald M. Mock

J Clin Invest. 2002 Jun 15; 109(12): 1617–1623. doi: 10.1172/JCI13138

PMCID:: PMC151007

Abstract Article PDF–387K

Select item 898599814.

Holocarboxylase synthetase knockout is embryonic lethal in mice

Mahrou Sadri, Haichuan Wang, Toshinobu Kuroishi, Yong Li, Janos Zempleni

PLoS One. 2022; 17(4): e0265539. Published online 2022 Apr 6. doi: 10.1371/journal.pone.0265539

PMCID:: PMC8985998

Abstract Article PDF–1.5M

Select item 168512915.

Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group.

G L Feldman, Y E Hsia, B Wolf

Am J Hum Genet. 1981 Sep; 33(5): 692–701.

PMCID:: PMC1685129

Summary Page Browse PDF–1.1M

Select item 331409016.

K16-biotinylated histone H4 is overrepresented in repeat regions and participates in the repression of transcriptionally competent genes in human Jurkat lymphoid cells

Luisa Rios-Avila, Valerie Pestinger, Janos Zempleni

J Nutr Biochem. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: J Nutr Biochem. 2012 Dec; 23(12): 1559–1564. Published online 2011 Dec 20. doi: 10.1016/j.jnutbio.2011.10.009

PMCID:: PMC3314090

Abstract Article PDF–1.3M

Select item 330684917.

Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis

Shingo Esaki, Sridhar A Malkaram, Janos Zempleni

Eur J Hum Genet. 2012 Apr; 20(4): 428–433. Published online 2011 Oct 26. doi: 10.1038/ejhg.2011.198

PMCID:: PMC3306849

Abstract Article PDF–620K

Select item 315443018.

The role of holocarboxylase synthetase in genome stability is mediated partly by epigenomic synergies between methylation and biotinylation events

Janos Zempleni, Yong Li, Jing Xue, Elizabeth L Cordonier

Epigenetics. 2011 Jul; 6(7): 892–894. Published online 2011 Jul 1. doi: 10.4161/epi.6.7.15544

PMCID:: PMC3154430

Abstract Article PDF–782K

Select item 266223219.

Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency

Anylu Pérez-Monjaras, Rafael Cervantes-Roldán, Iván Meneses-Morales, Roy A. Gravel, Sandra Reyes-Carmona, Sergio Solórzano-Vargas, Alfonso González-Noriega, Alfonso León-Del-Río

J Biol Chem. 2008 Dec 5; 283(49): 34150–34158. doi: 10.1074/jbc.M806985200

PMCID:: PMC2662232

Abstract Article PDF–578K

Select item 1097143220.

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