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1 . Academic Journal
O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
저자
by
Meena Sethuraman
;
Erik Koppes
;
Kaitlyn Scola
;
Kaitlyn Bloom
;
Al-Walid Mohsen
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100873- (2024)
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7 . Academic Journal
Mitochondrial dysfunction associated with TANGO2 deficiency
저자
by
Paige Heiman
;
Al-Walid Mohsen
;
Anuradha Karunanidhi
;
Claudette St Croix
;
Simon Watkins
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
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7 . Academic Journal
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction
저자
by
Rachel Wolfe
;
Paige Heiman
;
Olivia D'Annibale
;
Anuradha Karunanidhi
;
Alyssa Powers
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100932- (2022)
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7 . Academic Journal
Editorial: Mitochondrial Disorders: Biochemical and Molecular Basis of Disease
저자
by
Guilhian Leipnitz
;
Grant M. Hatch
;
Al-Walid Mohsen
;
Ronald J. A. Wanders
.
소스
Frontiers in Genetics, Vol 12 (2021)
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6 . Academic Journal
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly
저자
by
Chuanwu Xia
;
Baoying Lou
;
Zhuji Fu
;
Al-Walid Mohsen
;
Anna L. Shen
, et al.
소스
iScience, Vol 24, Iss 10, Pp 103153- (2021)
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7 . Academic Journal
Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
저자
by
Olivia M. D’Annibale
;
Yu Leng Phua
;
Clinton Van’t Land
;
Anuradha Karunanidhi
;
Alejandro Dorenbaum
, et al.
소스
Cells, Vol 11, Iss 17, p 2635 (2022)
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7 . Academic Journal
Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders
저자
by
Serena Raimo
;
Gabriella Zura-Miller
;
Hossein Fezelinia
;
Lynn A. Spruce
;
Iordanis Zakopoulos
, et al.
소스
Redox Biology, Vol 41, Iss , Pp 101923- (2021)
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7 .
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening
저자
by
Olivia M. D'Annibale
;
Erik A. Koppes
;
Meena Sethuraman
;
Kaitlyn Bloom
;
Al‐Walid Mohsen
, et al.
소스
J Inherit Metab Dis
Open Access (OpenAIRE)
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7 .
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study
저자
by
Anuradha Karunanidhi
;
Clinton Van't Land
;
Dhivyaa Rajasundaram
;
Mateus Grings
;
Jerry Vockley
, et al.
소스
J Inherit Metab Dis
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7 .
Heptanoic and Medium Branched-Chain Fatty Acids as Anaplerotic Treatment for Medium Chain Acyl-CoA Dehydrogenase Deficiency
저자
by
Anuradha Karunanidhi
;
Shakuntala Basu
;
Xue-Jun Zhao
;
Olivia D’Annibale
;
Clinton anon
, et al.
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