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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 PDF–25M

Select item 112250752.

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases

Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour

Mol Genet Genomic Med. 2024 Jul; 12(7): e2489. Published online 2024 Jul 5. doi: 10.1002/mgg3.2489

PMCID:: PMC11225075

Article PDF–2.1M

Select item 81508083.

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 PDF–1.6M

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 PDF–836K

Select item 99116585.

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 PDF–2.0M

Select item 72824256.

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 PDF–288K

Select item 56157647.

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 PDF–4.5M

Select item 105168378.

“Liver Failure in an Infant of Late-Onset Glutaric Aciduria Type II”: Case Report

Swasti Keshri, Anil Kumar Goel, Juliet Johns, Seema Shah

Indian J Clin Biochem. 2023 Oct; 38(4): 545–549. Published online 2021 Sep 27. doi: 10.1007/s12291-021-01007-7

PMCID:: PMC10516837

Article PDF–501K

Select item 109690109.

Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II

Ho-Poh Kek, Wan-Long Tsai, Pao-Chin Chiu, Wen-Harn Koh, Ching-Chung Tsai

Children (Basel) 2024 Mar; 11(3): 285. Published online 2024 Feb 26. doi: 10.3390/children11030285

PMCID:: PMC10969010

Article PDF–189K

Select item 798166410.

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 PDF–186K

Select item 879243911.

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 PDF–2.7M

Select item 411034012.

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 PDF–415K

Select item 811029913.

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 PDF–94K

Select item 478556514.

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 PDF–560K

Select item 411034115.

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 PDF–454K

Select item 721258816.

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 PDF–755K

Select item 450145717.

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli

Respir Med Case Rep. 2015; 15: 92–94. Published online 2015 May 11. doi: 10.1016/j.rmcr.2015.02.009

PMCID:: PMC4501457

Article PDF–321K

Select item 279122118.

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