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Items: 1 to 20 of 202

1.
Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China
Haili Hu, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, Yong Huang
Int J Neonatal Screen. 2024 Dec; 10(4): 68. Published online 2024 Oct 2. doi: 10.3390/ijns10040068
PMCID:
PMC11503379
AbstractArticlePDF–212K
2.
Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency
Stefania Martino, Pietro D’Addabbo, Antonella Turchiano, Francesca Clementina Radio, Alessandro Bruselles, Viviana Cordeddu, Cecilia Mancini, Alessandro Stella, Nicola Laforgia, Donatella Capodiferro, Simonetta Simonetti, Rosanna Bagnulo, Orazio Palumbo, Flaviana Marzano, Ornella Tabaku, Antonella Garganese, Michele Stasi, Marco Tartaglia, Graziano Pesole, Nicoletta Resta
Int J Mol Sci. 2024 Sep; 25(17): 9637. Published online 2024 Sep 5. doi: 10.3390/ijms25179637
PMCID:
PMC11395610
AbstractArticlePDF–1.5M
3.
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon
Rose T. Daher, Katia El Taoum, Jinane Samaha, Pascale E. Karam
Orphanet J Rare Dis. 2024; 19: 315. Published online 2024 Aug 29. doi: 10.1186/s13023-024-03325-4
PMCID:
PMC11363453
AbstractArticlePDF–851K
4.
Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation: A case report
Xue-Xia Li, Xiao-Nan Yang, Hu-Dan Pan, Liang Liu
World J Clin Cases. 2024 Aug 16; 12(23): 5422–5430. Published online 2024 Aug 16. doi: 10.12998/wjcc.v12.i23.5422
PMCID:
PMC11238677
AbstractArticlePDF–1.9M
5.
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
AbstractArticlePDF–2.1M
6.
Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort
Jie Ping Schee, Joo San Tan, Cheng Yin Tan, Nortina Shahrizaila, Kum Thong Wong, Khean Jin Goh
J Clin Neurol. 2024 Jul; 20(4): 422–430. Published online 2024 May 14. doi: 10.3988/jcn.2023.0265
PMCID:
PMC11220347
AbstractArticlePDF–1.0M
7.
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
Maria Al Bandari, Laura Nagy, Vivian Cruz, Stacy Hewson, Alomgir Hossain, Michal Inbar-Feigenberg
Int J Neonatal Screen. 2024 Jun; 10(2): 29. Published online 2024 Mar 30. doi: 10.3390/ijns10020029
PMCID:
PMC11036265
AbstractArticlePDF–225K
8.
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency
Nodoka Ikeda, Yoichi Wada, Tomohito Izumi, Yuichiro Munakata, Hideki Katagiri, Shigeo Kure
Mol Genet Metab Rep. 2024 Mar; 38: 101061. Published online 2024 Jan 26. doi: 10.1016/j.ymgmr.2024.101061
PMCID:
PMC10926221
AbstractArticlePDF–843K
9.
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Int J Neonatal Screen. 2024 Mar; 10(1): 15. Published online 2024 Feb 20. doi: 10.3390/ijns10010015
PMCID:
PMC10885094
AbstractArticlePDF–1.4M
10.
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis
Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang
Orphanet J Rare Dis. 2024; 19: 72. Published online 2024 Feb 16. doi: 10.1186/s13023-024-03072-6
PMCID:
PMC10873946
AbstractArticlePDF–1.5M
11.
Hip Dysplasia in a Patient in Late Adolescence With Charcot-Marie-Tooth and Multiple Acyl-CoA Dehydrogenase Deficiency
Amirmohammad Heidari, Cameron Stephen, Benan Dala-Ali, Jane Webber, Oliver Pearce, Mohamed H. Ahmed
J Med Cases. 2024 Jan; 15(1): 20–25. Published online 2024 Jan 28. doi: 10.14740/jmc4174
PMCID:
PMC10846495
AbstractArticlePDF–1.5M
12.
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency
Anuradha Karunanidhi, Shakuntala Basu, Xue-Jun Zhao, Olivia D’Annibale, Clinton Van’t Land, Jerry Vockley, Al-Walid Mohsen
Mol Genet Metab. Author manuscript; available in PMC 2024 Nov 1.
Published in final edited form as: Mol Genet Metab. 2023 Nov; 140(3): 107689. Published online 2023 Aug 25. doi: 10.1016/j.ymgme.2023.107689
PMCID:
PMC10840664
AbstractArticlePDF–6.2M
13.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
Orphanet J Rare Dis. 2024; 19: 15. Published online 2024 Jan 14. doi: 10.1186/s13023-023-03014-8
PMCID:
PMC10789041
AbstractArticlePDF–1.3M
14.
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives
Sarah Crawford, Elizabeth Sablon, Nadia Ali, Ami R. Rosen, Patricia L. Hall, Juanita Neira Fresneda
Int J Neonatal Screen. 2023 Dec; 9(4): 53. Published online 2023 Oct 6. doi: 10.3390/ijns9040053
PMCID:
PMC10594473
AbstractArticlePDF–517K
15.
The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13
Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi
Glob Med Genet. 2023 Dec; 10(4): 278–281. Published online 2023 Oct 10. doi: 10.1055/s-0043-1775979
PMCID:
PMC10564565
AbstractArticlePDF–804K
16.
Case report: Diagnosis of a patient with Sifrim–Hitz–Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency
Naim Zeka, Eris Zeka, Esra Zhubi, Ilir Hoxha
Front Pediatr. 2023; 11: 1230056. Published online 2023 Sep 4. doi: 10.3389/fped.2023.1230056
PMCID:
PMC10507246
AbstractArticlePDF–12M
17.
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
Christoff Odendaal, Emmalie A. Jager, Anne-Claire M. F. Martines, Marcel A. Vieira-Lara, Nicolette C. A. Huijkman, Ligia A. Kiyuna, Albert Gerding, Justina C. Wolters, Rebecca Heiner-Fokkema, Karen van Eunen, Terry G. J. Derks, Barbara M. Bakker
BMC Biol. 2023; 21: 184. Published online 2023 Sep 4. doi: 10.1186/s12915-023-01652-9
PMCID:
PMC10478272
AbstractArticlePDF–1.9M
18.
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
Jariya Upadia, Grace Noh, John J. Lefante, Hans C. Andersson
Mol Genet Metab Rep. 2023 Dec; 37: 101002. Published online 2023 Aug 25. doi: 10.1016/j.ymgmr.2023.101002
PMCID:
PMC10475501
AbstractArticlePDF–2.4M
19.
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Wen-Chen Liang, Aya Ohkuma, Yukiko K. Hayashi, Luis Carlos López, Michio Hirano, Ikuya Nonaka, Satoru Noguchi, Liang-Hui Chen, Yuh-Jyh Jong, Ichizo Nishino
Neuromuscul Disord. Author manuscript; available in PMC 2023 Aug 8.
Published in final edited form as: Neuromuscul Disord. 2009 Mar; 19(3): 212–216. Published online 2009 Feb 26. doi: 10.1016/j.nmd.2009.01.008
PMCID:
PMC10409523
AbstractArticlePDF–554K
20.
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
Jingzhe HAN, Shan LU, Xueqin SONG, Guang JI, Yanan XIE, Hongran WU
Turk J Med Sci. 2022; 52(4): 1256–1265. Published online 2022 May 12. doi: 10.55730/1300-0144.5431
PMCID:
PMC10388001
AbstractArticlePDF–907K

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