Zobrazeno 1 - 10
of 490
pro vyhledávání: '"Multiple acyl-CoA dehydrogenase deficiency"'
Autor:
Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J. Anderson, Marzia Pasquali, Lorenzo D. Botto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101142- (2024)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous phenotypes as
Externí odkaz:
https://doaj.org/article/13712aa79f9049628045d3f7e554c0c8
Autor:
Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Glutaric aciduria type II (GA2) is a rare genetic disorder inherited in an autosomal recessive manner. Double dosage mutations in GA2 corresponding genes, ETFDH, ETFA, and ETFB, lead to defects in the catabolism of fatty acids, an
Externí odkaz:
https://doaj.org/article/16917a6275de436e9d731ff61530fd2a
Autor:
Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and women equally. Methods
Externí odkaz:
https://doaj.org/article/e5d62e719d9147039f14c655786ee196
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer flavoprotein-ubiquinone
Externí odkaz:
https://doaj.org/article/4f97c609fc144737ad690173a33bc63e
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101061- (2024)
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder caused by biallelic pathogenic variants in genes related to the flavoprotein complex. Dysfunction of the complex leads to impaired fatty acid oxidation a
Externí odkaz:
https://doaj.org/article/ff61a9a08e0c4a268871d79d6aabfe25
Autor:
Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Peng
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23671- (2024)
Background and aims: Fatty acid oxidation disorders (FAODs) are a group of autosomal recessive metabolic diseases included in many newborn screening (NBS) programs, but the incidence and disease spectrum vary widely between ethnic groups. We aimed to
Externí odkaz:
https://doaj.org/article/6b76955ec05042ccbb7b77f3fb495f0b
Publikováno v:
Children, Vol 11, Iss 3, p 285 (2024)
Background: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages. Case Report: This study presents a distinctive
Externí odkaz:
https://doaj.org/article/678bea1b8d364d85ac6981d51f40fffd
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