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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
by
Ganapathi, Mythily
,
Friocourt, Gaelle
,
Gueguen, Naig
,
Friederich, Marisa W.
,
Le Gac, Gerald
,
Okur, Volkan
,
Loaëc, Nadège
,
Ludwig, Thomas
,
Ka, Chandran
,
Tanji, Kurenai
,
Marcorelles, Pascale
,
Theodorou, Evangelos
,
Lignelli‐Dipple, Angela
,
Voisset, Cécile
,
Walker, Melissa A.
,
Briere, Lauren C.
,
Bourhis, Amélie
,
Blondel, Marc
,
LeDuc, Charles
,
Hagen, Jacob
,
Cooper, Cathleen
,
Muraresku, Colleen
,
Ferec, Claude
,
Garenne, Armelle
,
Lelez‐Soquet, Servane
,
Rogers, Cassandra A.
,
Shen, Yufeng
,
Strode, Dana K.
,
Bizargity, Peyman
,
Iglesias, Alejandro
,
Goldstein, Amy
,
High, Frances A.
,
Network, Undiagnosed Diseases
,
Sweetser, David A.
,
Ganetzky, Rebecca
,
Van Hove, Johan L. K.
,
Procaccio, Vincent
,
Le Marechal, Cedric
,
Chung, Wendy K.
Published in
Journal of inherited metabolic disease
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Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases
by
Van Hove, Johan L K
,
Friederich, Marisa W
,
Strode, Dana K
,
Van Hove, Roxanne A
,
Miller, Kristen R
,
Sharma, Rohit
,
Shah, Hardik
,
Estrella, Jane
,
Gabel, Linda
,
Horslen, Simon
,
Kohli, Rohit
,
Lovell, Mark A
,
Miethke, Alexander G
,
Molleston, Jean P
,
Romero, Rene
,
Squires, James E
,
Alonso, Estella M
,
Guthery, Stephen L
,
Kamath, Binita M
,
Loomes, Kathleen M
,
Rosenthal, Philip
,
Mysore, Krupa R
,
Cavallo, Laurel A
,
Valentino, Pamela L
,
Magee, John C
,
Sundaram, Shikha S
,
Sokol, Ronald J
Published in
Hepatology communications
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Hepatology Communications
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Journal Of Inherited Metabolic Disease
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Life Sciences & Biomedicine
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Science & Technology
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Alagille Syndrome - Diagnosis
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Alternative Splicing
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Atp Synthase
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Atp5Po
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Atrophy
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Biliary Atresia - Diagnosis
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Biomarkers
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Brain Diseases - Metabolism
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Cardiomyopathy
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Child
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Complex V
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