Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

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Title: Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.
Authors: Balletto G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Barbagallo G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Cataldi M; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Germano F; Unit of Neurology and Neurophysiology, E.O. Ospedali Galliera, Genoa, Italy., Traverso M; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Leuzzi D; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Martinez Popple M; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Geroldi A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; UO Genetica Medica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Gotta F; UO Genetica Medica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Bellone E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; UO Genetica Medica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy., Fiorillo C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.; Child Neuropsychiatry, IRCCS Istituto G.Gaslini, Genoa, Italy.
Source: Journal of child neurology [J Child Neurol] 2026 Feb; Vol. 41 (2), pp. 252-258. Date of Electronic Publication: 2025 Aug 17.
Publication Type: Case Reports; Journal Article; Review
Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1708-8283
DOI:10.1177/08830738251356850