Glutaric Aciduria Type II - PMC

Result Filters

You searched 8+ million full text articles

Try this search in 34+ million citations and abstracts

PMC Full-Text Search Results

Items: 1 to 20 of 929

<< First< Prev

Page of 47

Next >Last >>

Did you mean: glutaric acid ria type ii (10 items)

Select item 84662041.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

Amanat Ali, Fatmah Saeed Ali Almesmari, Nahid Al Dhahouri, Arwa Mohammad Saleh Ali, Mohammed Ahmed Ali Mohamed Ahmed Aldhanhani, Ranjit Vijayan, Amal Al Tenaiji, Aisha Al Shamsi, Jozef Hertecant, Fatma Al Jasmi

Genes (Basel) 2021 Sep; 12(9): 1334. Published online 2021 Aug 27. doi: 10.3390/genes12091334

PMCID:: PMC8466204

Article PubReader PDF–25M Cite

Select item 81508082.

Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency

Amanat Ali, Nahid Al Dhahouri, Fatmah Saeed Ali Almesmari, Waseem Mahmoud Fathalla, Fatma Al Jasmi

Genes (Basel) 2021 May; 12(5): 703. Published online 2021 May 8. doi: 10.3390/genes12050703

PMCID:: PMC8150808

Article PubReader PDF–1.6M Cite

Select item 56157643.

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

Ying Xue, Yun Zhou, Keqin Zhang, Ling Li, Abudurexiti Kayoumu, Liye Chen, Yuhui Wang, Zhiqiang Lu

Lipids Health Dis. 2017; 16: 185. Published online 2017 Sep 26. doi: 10.1186/s12944-017-0576-5

PMCID:: PMC5615764

Article PubReader PDF–4.5M Cite

Select item 39701094.

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

Lynne A. Wolfe, Miao He, Jerry Vockley, Nicole Payne, William Rhead, Charles Hoppel, Elaine Spector, Kim Gernert, K. Michael Gibson

J Inherit Metab Dis. Author manuscript; available in PMC 2014 Mar 31.

Published in final edited form as: J Inherit Metab Dis. 2010 Dec; 33(0 3): S481–S487. Published online 2010 Nov 19. doi: 10.1007/s10545-010-9246-8

PMCID:: PMC3970109

Article PubReader PDF–836K Cite

Select item 72824255.

Sudden cardiac arrest during induction of anaesthesia in paediatric patient with glutaric aciduria type II

Sema Şanal Baş, Gonca Kılıç Yıldırım

Sudan J Paediatr. 2020; 20(1): 58–61. doi: 10.24911/SJP.106-1580816331

PMCID:: PMC7282425

Article PubReader PDF–288K Cite

Select item 99116586.

Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II

Sijia Zhu, Dongxue Ding, Jianhua Jiang, Meirong Liu, Liqiang Yu, Qi Fang

Front Neurol. 2023; 14: 1087421. Published online 2023 Jan 27. doi: 10.3389/fneur.2023.1087421

PMCID:: PMC9911658

Article PubReader PDF–2.0M Cite

Select item 81102997.

Glutaric Aciduria Type II With Ketosis in a Male Infant

Krutika Tandon, Rahul Tandon, Meet Patel, Charmy Parikh, Henil Upadhyay

Cureus. 2021 Apr; 13(4): e14407. Published online 2021 Apr 10. doi: 10.7759/cureus.14407

PMCID:: PMC8110299

Article PubReader PDF–94K Cite

Select item 79816648.

Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping

Laurence Carmant, Aspasia Karalis, Françoise Rypens, Luc Oligny, Sandrine Wavrant, Anne‐Laure Lapeyraque, Elisabeth Codsi

Clin Case Rep. 2021 Mar; 9(3): 1101–1103. Published online 2021 Jan 12. doi: 10.1002/ccr3.3663

PMCID:: PMC7981664

Article PubReader PDF–186K Cite

Select item 87924399.

Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC

Lingtong Huang, Wei Wu, Yijing Zhu, Huili Yu, Lingling Tang, Xueling Fang

Front Immunol. 2021; 12: 810677. Published online 2022 Jan 13. doi: 10.3389/fimmu.2021.810677

PMCID:: PMC8792439

Article PubReader PDF–2.7M Cite

Select item 411034010.

Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat

Shoichi Wakitani, Shidow Torisu, Taiki Yoshino, Kazuhisa Hattanda, Osamu Yamato, Ryuji Tasaki, Haruo Fujita, Koichiro Nishino

JIMD Rep. 2014; 13: 43–51. Published online 2013 Oct 20. doi: 10.1007/8904_2013_268

PMCID:: PMC4110340

Article PubReader PDF–415K Cite

Select item 478556511.

A novel ETFB mutation in a patient with glutaric aciduria type II

Yosuke Sudo, Ayako Sasaki, Takashi Wakabayashi, Chikahiko Numakura, Kiyoshi Hayasaka

Hum Genome Var. 2015; 1: 15016. Published online 2015 Jun 18. doi: 10.1038/hgv.2015.16

PMCID:: PMC4785565

Article PubReader PDF–560K Cite

Select item 411034112.

Newborn Screening for Glutaric Aciduria-II: The New England Experience

I. Sahai, C. L. Garganta, J. Bailey, P. James, H. L. Levy, M. Martin, E. Neilan, C. Phornphutkul, D. A. Sweetser, T. H. Zytkovicz, R. B. Eaton

JIMD Rep. 2014; 13: 1–14. Published online 2013 Nov 5. doi: 10.1007/8904_2013_262

PMCID:: PMC4110341

Article PubReader PDF–454K Cite

Select item 944671713.

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report

Loredana De Pasquale, Petronilla Meo, Francesco Fulia, Antonio Anania, Valerio Meli, Antonina Mondello, Maria Tindara Raimondo, Viviana Tulino, Maria Sole Coletta, Caterina Cacace

Ital J Pediatr. 2022; 48: 164. Published online 2022 Sep 5. doi: 10.1186/s13052-022-01356-w

PMCID:: PMC9446717

Article PubReader PDF–719K Cite

Select item 699049014.

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye

BMC Med Genomics. 2020; 13: 12. Published online 2020 Jan 29. doi: 10.1186/s12920-020-0665-6

PMCID:: PMC6990490

Article PubReader PDF–707K Cite

Select item 721258815.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang

BMC Med Genet. 2020; 21: 98. Published online 2020 May 11. doi: 10.1186/s12881-020-00995-2

PMCID:: PMC7212588

Article PubReader PDF–755K Cite

Select item 279122116.

Mechanisms Underlying Metabolic and Neural Defects in Zebrafish and Human Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)

Yuanquan Song, Mary A. Selak, Corey T. Watson, Christopher Coutts, Paul C. Scherer, Jessica A. Panzer, Sarah Gibbs, Marion O. Scott, Gregory Willer, Ronald G. Gregg, Declan W. Ali, Michael J. Bennett, Rita J. Balice-Gordon

PLoS One. 2009; 4(12): e8329. Published online 2009 Dec 17. doi: 10.1371/journal.pone.0008329