Titlebook: JIMD Reports, Volume 33; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inh

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Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive ildren with phenylketonuria (PKU; . = 36). To do so, we examined mean diffusivity (MD) from diffusion tensor imaging (DTI) in two white matter brain regions (posterior parietal–occipital, PPO; centrum semiovale, CSO) and lifetime phenylalanine (Phe) exposure; the executive abilities examined include

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異端

Novel Homozygous Missense Mutation in , Gene Results in Troyer Syndrome Associated with Mitochondriase is associated with a loss of function mechanism of spartin, the protein encoded by ., the precise pathogenesis is yet to be elucidated. Recent data indicated an important role for spartin in both mitochondrial maintenance and function. Here we report a child presenting with progressive spastic p

Initial

Lethal Neonatal LTBL Associated with Biallelic , Variants: Case Report and Review of the Reported Nciency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and pro

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Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other developed a novel assessment, peak jump power (PJP), and related this to ambulatory ability in patients either having a known or suspected underlying rare disease. From adults and children, we recruited 88 healthy controls and 115 patients (61 with mitochondrial disease and 54 with another diagnosis

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Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?,nts, compound heterozygous for . mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and infratentorial structures. Early pontocerebellar hypoplasia was virtually absent and respiratory chain (RC) defects could not be detected in muscle biopsies.

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MAUVE

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemive disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome..We describe a unique presentation of Leigh-like syndrome in a 3-year-