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Results for

""Multiple Acyl Coenzyme A Dehydrogenase Deficiency""[mesh_terms]

19 Results

Searching titles within these results

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Michelle Mereis, Ronald J A Wanders, Maryke Schoonen, Marli Dercksen, Izelle Smuts, Francois H van der Westhuizen

The international journal of biochemistry & cell biology 2024;132():105899

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Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

Rita Horvath

Journal of inherited metabolic disease 2013;35(4):679-87

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New insight in lipid storage myopathy.

Chuanzhu Yan, Bing Wen, Jingwen Xu

Neuromuscular disorders : NMD 2025;51():105367

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Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.

Maria Tolomeo, Alessia Nisco, Piero Leone, Maria Barile

International journal of molecular sciences 2021;21(15):5310

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Management of pregnancy and childbirth in a patient with glutaric aciduria type II.

Cristina Angeli, Lorenza Driul, Giuseppe Vizzielli, Vanni Pezzarini, Francesca Ferrara, Alice Poli, Valentina Zanin, Marta Angelini, Alessia Sala, Stefano Restaino

Minerva obstetrics and gynecology 2024;76(1):102-106

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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, A Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray, Carolyn J Ellaway, Matthias Gautschi, Michael T Geraghty, David Gil-Ortega, Austin A Larson, Francesca Moore, Eva Morava, Andrew A Morris, Kimihiko Oishi, Manuel Schiff, Sabine Scholl-Bürgi, Michel C Tchan, Jerry Vockley, Peter Witters, Saskia B Wortmann, Francjan van Spronsen, Johan L K Van Hove, Terry G J Derks

Genetics in medicine : official journal of the American College of Medical Genetics 2021;22(5):908-916

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Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes.

Bárbara J Henriques, Rikke K Olsen, Peter Bross, Cláudio M Gomes

Current medicinal chemistry 2011;17(32):3842-54

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Two eminently treatable genetic metabolic myopathies.

Woon-Chee Yee

Neurology India 2009;56(3):333-8

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Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

H Lochmüller, S Spendiff, R Thompson, A Manta

Journal of neuromuscular diseases 2021;8(3):401-417

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Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.

Qingxia Kong, Meijuan Ding, Yanke Zhang, Li Qiubo, Ruihua Liu

Medicine 2020;99(37):e21944

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Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.

Yufen Peng, Min Zhu, Junjun Zheng, Yuanzhao Zhu, Xiaobing Li, Caixia Wei, Daojun Hong

BMC neurology 2016;15():114

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An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.

Hashim Khan, Matthew Eskell

The journal of the Royal College of Physicians of Edinburgh 2022;52(3):256-258

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The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis.

Huiqiu Zhang, Dan Liu, Wei Zhang, Juan Wang, Jing Ma, Junhong Guo, Xueli Chang, Menghan Su, Rongjuan Zhao, Weisong Duan, Junsen Zhao

Orphanet journal of rare diseases 2025;20(1):310

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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.

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

Molecular genetics & genomic medicine 2024;12(7):e2489

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The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.

Junhong Guo, Rongjuan Zhao, Huiqiu Zhang, Wei Zhang, Juan Wang, Jing Ma, Xueli Chang, Guanxi Li, Feng Liang, Xiaomin Pang

Orphanet journal of rare diseases 2024;19(1):72

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Results: 1 – 15 / 19

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Results for ""Multiple Acyl Coenzyme A Dehydrogenase Deficiency""[mesh_terms]

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

New insight in lipid storage myopathy.

Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.

Management of pregnancy and childbirth in a patient with glutaric aciduria type II.

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes.

Two eminently treatable genetic metabolic myopathies.

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.

Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review.

An unusual presentation of type III late onset multiple-acyl-CoA dehydrogenase deficiency leading to a review of its classification system.

The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis.

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.

The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.

Results for

""Multiple Acyl Coenzyme A Dehydrogenase Deficiency""[mesh_terms]