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Select item 104875391.

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1

Madalena Barroso, Marcus Gertzen, Alexandra F. Puchwein-Schwepcke, Heike Preisler, Andreas Sturm, Dunja D. Reiss, Marta K. Danecka, Ania C. Muntau, Søren W. Gersting

Int J Mol Sci. 2023 Sep; 24(17): 13158. Published online 2023 Aug 24. doi: 10.3390/ijms241713158

PMCID:: PMC10487539

Article PDF–1.8M

Select item 102996092.

Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking

Shu Liu, Ye Zhang, Zhi Deng, Hui He, Xianhua Zheng, Qingshan Hong, Xianqiong Luo

Int J Mol Sci. 2023 Jun; 24(12): 10239. Published online 2023 Jun 16. doi: 10.3390/ijms241210239

PMCID:: PMC10299609

Article PDF–4.1M

Select item 98720493.

Growth advantage of corrected hepatocytes in a juvenile model of methylmalonic acidemia following liver directed adeno-associated viral mediated nuclease-free genome editing

Leah E. Venturoni, Randy J. Chandler, Jing Liao, Victoria Hoffmann, Nikhil Ramesh, Susana Gordo, Nelson Chau, Charles P. Venditti

Mol Genet Metab. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Mol Genet Metab. 2022 Sep-Oct; 137(1-2): 1–8. Published online 2022 Jul 4. doi: 10.1016/j.ymgme.2022.06.011

PMCID:: PMC9872049

Article PDF–778K

Select item 91097624.

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

Article PDF–2.4M

Select item 86076115.

Functional neurologic disorders in an adult with propionic acidemia: a case report

Alexis Tarrada, Solène Frismand-Kryloff, Coraline Hingray

BMC Psychiatry. 2021; 21: 587. Published online 2021 Nov 22. doi: 10.1186/s12888-021-03596-2

Correction in:: BMC Psychiatry. 2022; 22: 31.

PMCID:: PMC8607611

Article PDF–950K

Select item 85784056.

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Olivia M. D’Annibale, Erik A. Koppes, Ahmad N. Alodaib, Catherine Kochersperger, Anuradha Karunanidhi, Al-Walid Mohsen, Jerry Vockley

Mol Genet Metab. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Mol Genet Metab. 2021 Sep-Oct; 134(1-2): 29–36. Published online 2021 Aug 30. doi: 10.1016/j.ymgme.2021.08.012

PMCID:: PMC8578405

Article PDF–835K

Select item 73367497.

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu

Mol Genet Genomic Med. 2020 Jul; 8(7): e1301. Published online 2020 May 15. doi: 10.1002/mgg3.1301

PMCID:: PMC7336749

Article PDF–1.1M

Select item 72840488.

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

Chao Wang, Yang Liu, Fengying Cai, Xinjie Zhang, Xiaowei Xu, Yani Li, Qianqian Zou, Jie Zheng, Yuqin Zhang, Wei Guo, Chunquan Cai, Jianbo Shu

Mol Genet Genomic Med. 2020 Jun; 8(6): e1221. Published online 2020 Mar 21. doi: 10.1002/mgg3.1221

PMCID:: PMC7284048

Article PDF–959K

Select item 71874849.

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

Sarah C. Grünert, Jörn Oliver Sass

Orphanet J Rare Dis. 2020; 15: 106. Published online 2020 Apr 28. doi: 10.1186/s13023-020-01357-0

PMCID:: PMC7187484

Article PDF–1023K

Select item 702373210.

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

Sarah C. Grünert, Jörn Oliver Sass

Orphanet J Rare Dis. 2020; 15: 48. Published online 2020 Feb 14. doi: 10.1186/s13023-020-1319-7

Correction in:: Orphanet J Rare Dis. 2022; 17: 16.

PMCID:: PMC7023732

Article PDF–1.0M

Select item 699807911.

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi

BMC Med Genet. 2020; 21: 22. Published online 2020 Feb 3. doi: 10.1186/s12881-020-0959-8

PMCID:: PMC6998079

Article PDF–809K

Select item 690040712.

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child

Jae Young Choe, Kyung Mi Jang, So Yoon Min, Su-Kyeong Hwang, Ben Kang, Byung-Ho Choe

J Korean Med Sci. 2019 Dec 9; 34(47): e303. Published online 2019 Nov 12. doi: 10.3346/jkms.2019.34.e303

PMCID:: PMC6900407

Article PDF–1.1M

Select item 689896613.

Liver Transplantation in Propionic and Methylmalonic Acidemia: A Single Center Study with Literature Review

Nishitha R. Pillai, Bridget M. Stroup, Anna Poliner, Linda Rossetti, Brandy Rawls, Brian J. Shayota, Claudia Soler-Alfonso, Hari Priya Tunuguntala, John Goss, William Craigen, Fernando Scaglia, V. Reid Sutton, Ryan Wallace Himes, Lindsay C. Burrage

Mol Genet Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Mol Genet Metab. 2019 Dec; 128(4): 431–443. Published online 2019 Nov 7. doi: 10.1016/j.ymgme.2019.11.001

PMCID:: PMC6898966

Article PDF–794K

Select item 681684914.

Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy

Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu

J Clin Lab Anal. 2018 Jun; 32(5): e22375. Published online 2018 Jan 4. doi: 10.1002/jcla.22375

PMCID:: PMC6816849

Article PDF–523K

Select item 664233215.

Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia

Ding An, Andrea Frassetto, Eric Jacquinet, Marianne Eybye, Joseph Milano, Christine DeAntonis, Vi Nguyen, Rodrigo Laureano, Jaclyn Milton, Staci Sabnis, Christine M. Lukacs, Lin T. Guey

EBioMedicine. 2019 Jul; 45: 519–528. Published online 2019 Jul 12. doi: 10.1016/j.ebiom.2019.07.003

PMCID:: PMC6642332

Article PDF–2.2M

Select item 661725016.

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1

Hatem Zayed, Hamed El Khayat, Hoda Tomoum, Ola Khalifa, Ehab Siddiq, Shaimaa A. Mohammad, Radwa Gamal, Zumin Shi, Ahmed Mosailhy, Osama K. Zaki

Metab Brain Dis. 2019; 34(4): 1231–1241. Published online 2019 May 6. doi: 10.1007/s11011-019-00422-3

PMCID:: PMC6617250

Article PDF–505K

Select item 632803017.

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Madeline W. Epping, Lina Li, Cindy Wang, Jennifer L. Sloan, Alexandra Pass, Jack Gagné, Yiouli P. Ktena, Lingli Li, Niraj S. Trivedi, Bazoumana Ouattara, Patricia M. Zerfas, Victoria Hoffmann, Mones Abu-Asab, Maria G. Tsokos, David E. Kleiner, Caterina Garone, Kristina Cusmano-Ozog, Gregory M. Enns, Hilary J. Vernon, Hans C. Andersson, Stephanie Grunewald, Abdel G. Elkahloun, Christiane L. Girard, Jurgen Schnermann, Salvatore DiMauro, Eva Andres-Mateos, Luk H. Vandenberghe, Randy J. Chandler, Charles P. Venditti

JCI Insight. 2018 Dec 6; 3(23): e124351. Published online 2018 Dec 6. doi: 10.1172/jci.insight.124351

PMCID:: PMC6328030

Article PDF–5.4M

Select item 613786818.

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng

BMC Med Genet. 2018; 19: 167. Published online 2018 Sep 14. doi: 10.1186/s12881-018-0675-9

PMCID:: PMC6137868

Article PDF–937K

Select item 602446319.

Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report

Zhanqi Zhao, Chan-Ching Chu, Mei-Yun Chang, Hao-Tai Chang, Yeong-Long Hsu

Medicine (Baltimore) 2018 Jun; 97(25): e11162. Published online 2018 Jun 22. doi: 10.1097/MD.0000000000011162

PMCID:: PMC6024463

Article PDF–501K

Select item 567183020.

Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review

Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang

Medicine (Baltimore) 2017 Oct; 96(43): e8284. Published online 2017 Oct 27. doi: 10.1097/MD.0000000000008284

PMCID:: PMC5671830

Article PDF–799K

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