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1-2 of 2 results for short-chain enoyl-CoA hydratase deficiency

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Select article: Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

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Case report

First published 2023-3

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

Eva Manuela Pena-Burgos, Rita María Regojo, Miguel Sáenz de Pipaón [...]

Pediatric and Developmental Pathology

Select article: Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions

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Research article

First published 2020-6

Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions

Ahmed Gilani, Johan LK Van Hove, Janet A Thomas [...]

Pediatric and Developmental Pathology

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