5 Result(s)
within
Felix Distelmaier
Human Genetics
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Article
Open AccessClinical implementation of RNA sequencing for Mendelian disease diagnostics
Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing ...
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Article
Open AccessCorrection to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency
A Correction to this paper has been published: https://doi.org/10.1007/s00109-021-02057-3
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Article
Open AccessChallenges of palliative care in children with inborn metabolic diseases
Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study ...
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Article
Open AccessA scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
Recently, CLPB deficiency has been shown to cause a genetic syndrome with cataracts, neutropenia, and 3-methylglutaconic aciduria. Surprisingly, the neurological presentation ranges from completely unaffected ...
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Article
Open AccessThe antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency
Malfunction of mitochondrial complex I caused by nuclear gene mutations causes early-onset neurodegenerative diseases. Previous work using cultured fibroblasts of complex-I-deficient patients revealed elevated...
