Last Updated: 09/26/2026
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Found 4 publications
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Journal: Molecular genetics and metabolism
Published: August 14, 2019
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 04, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 17, 2018
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Journal: Molecular genetics and metabolism
Published: January 18, 2017
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Last Updated: 09/26/2026