Zobrazeno 1 - 10
of 332
pro vyhledávání: '"VLCAD"'
Autor:
Prapti Singh, Deirdre Amaro, Olugbemisola Obi, FNU Kiran, Erin Hediger, Tomi L. Toler, Patricia I. Dickson, Dorothy K. Grange
Publikováno v:
JIMD Reports, Vol 64, Iss 4, Pp 261-264 (2023)
Abstract Very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β‐oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failu
Externí odkaz:
https://doaj.org/article/23da19b87eb94c969d0a5c4bc66534c3
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101002- (2023)
Objective: To define the biochemical and molecular characteristics and diagnostic outcomes of a large US cohort of VLCAD deficiency positive cases as detected by newborn screening (NBS) with MS:MS. This relatively common disorder of fatty acid oxidat
Externí odkaz:
https://doaj.org/article/7205a7ca0414491ca63cd58790629385
Autor:
Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, Takashi Hamajima, Go Tajima, Kazuyoshi Saito, Shunsuke Miyai, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 3-9 (2023)
Abstract Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, an
Externí odkaz:
https://doaj.org/article/dbca94f3e08340eca6fe5f9231705e2d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Barbara Risi, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Brain Sciences, Vol 13, Iss 8, p 1178 (2023)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyo
Externí odkaz:
https://doaj.org/article/f5347bd49a73490cb7331b28aed8a63b
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Olivia M. D’Annibale, Yu Leng Phua, Clinton Van’t Land, Anuradha Karunanidhi, Alejandro Dorenbaum, Al-Walid Mohsen, Jerry Vockley
Publikováno v:
Cells, Vol 11, Iss 17, p 2635 (2022)
Background: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive disease that prevents the body from utilizing long-chain fatty acids for energy, most needed during stress and fasting. Symptoms can appear from infancy t
Externí odkaz:
https://doaj.org/article/7cdeef019e9f44d2ab85e37c8a9049b3
Autor:
Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, Mayu Ooi, Yuichi Okata, Yuko Bitoh, Satoshi Mizobuchi, Kazumoto Iijima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100760- (2021)
Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD, OMIM 201475) is a congenital fatty acid oxidation disorder. Individuals with VLCADD should avoid catabolic states, including strenuous exercise and long-term fasting; however, such con
Externí odkaz:
https://doaj.org/article/32f499cf545f43919061349205253c6d
Autor:
Serena Raimo, Gabriella Zura-Miller, Hossein Fezelinia, Lynn A. Spruce, Iordanis Zakopoulos, Al-Walid Mohsen, Jerry Vockley, Harry Ischiropoulos
Publikováno v:
Redox Biology, Vol 41, Iss , Pp 101923- (2021)
Mutations in nuclear genes encoding for mitochondrial proteins very long-chain acyl-CoA dehydrogenase (VLCAD) and trifunctional protein (TFP) cause rare autosomal recessive disorders. Studies in fibroblasts derived from patients with mutations in VLC
Externí odkaz:
https://doaj.org/article/647ab3c0d1704238a86bf36bec3e1ccf