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Select item 103970971.

Fang HONG, Xinwen HUANG, Yu ZHANG, Jianbin YANG, Fan TONG, Huaqing MAO, Xiaolei HUANG, Xuelian ZHOU, Rulai YANG, Zhengyan ZHAO

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 240–247. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.03

PMCID:: PMC10397097

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Select item 101463792.

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

Loai A. Shakerdi, Barbara Gillman, Emma Corcoran, Jenny McNulty, Eileen P. Treacy

Metabolites. 2023 Apr; 13(4): 518. Published online 2023 Apr 4. doi: 10.3390/metabo13040518

PMCID:: PMC10146379

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Select item 55785683.

A Case of Organic Acidemia: Are Physicians Aware Enough?

Taskina Mosleh, Sanjoy Kumer Dey, Md Abdul Mannan

Euroasian J Hepatogastroenterol. 2016 Jan-Jun; 6(1): 89–90. Published online 2016 Jul 9. doi: 10.5005/jp-journals-10018-1175

PMCID:: PMC5578568

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Select item 48851584.

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

Reza NAJAFI, Mahin HASHEMIPOUR, Neda MOSTOFIZADEH, Mohammadreza GHAZAVI, Jafar NASIRI, Armindokht SHAHSANAI, Fatemeh FAMORI, Fatemeh NAJAFI, Mohammad MOAFI

Iran J Child Neurol. 2016 Spring; 10(2): 74–81.

PMCID:: PMC4885158

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Select item 30257975.

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Tjitske Kleefstra, Saskia B Wortmann, Richard J T Rodenburg, Ernie M H F Bongers, Kinga Hadzsiev, Cees Noordam, Lambert P van den Heuvel, Willy M Nillesen, Katalin Hollody, Gabrielle Gillessen-Kaesbach, Martin Lammens, Jan A M Smeitink, Ineke van der Burgt, Eva Morava

Eur J Hum Genet. 2011 Feb; 19(2): 138–144. Published online 2010 Nov 10. doi: 10.1038/ejhg.2010.171

PMCID:: PMC3025797

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Select item 15461176.

Organic aciduria. Treatable cause of floppy infant syndrome.

B R Keeton

Arch Dis Child. 1976 Aug; 51(8): 636–638. doi: 10.1136/adc.51.8.636

PMCID:: PMC1546117

Summary Page Browse PDF–636K Cite

Select item 11483447.

Organic aciduria in rats made resistant to hypoglycin toxicity by pretreatment with clofibrate.

R K Veitch, H S Sherratt, K Bartlett

Biochem J. 1987 Sep 15; 246(3): 775–778. doi: 10.1042/bj2460775

PMCID:: PMC1148344

Summary Page Browse PDF–749K Cite

Select item 102996098.

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

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Select item 98720499.

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

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Select item 910976210.

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

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Select item 860761111.

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

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Select item 857840512.

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

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Select item 733674913.

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

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Select item 728404814.

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

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Select item 718748415.

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

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Select item 702373216.

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

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Select item 699807917.

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

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Select item 690040718.

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

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Select item 689896619.

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

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Select item 681684920.

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

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