Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12253
Abstract: Timely diagnosis is essential for patients with neurometabolic disorders to enable targeted treatment. Next‐Generation Metabolic Screening (NGMS) allows for simultaneous screening of multiple diseases and yields a holistic view of disturbed metabolic pathways. We applied… read more here.
Keywords: age dependent; age; csf; neurometabolic disorders ... See more keywords
Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
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DOI: 10.1007/s10545-018-0240-x
Abstract: Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help… read more here.
Keywords: role postsynaptic; stage role; setting stage; role ... See more keywords
Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders
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DOI: 10.1111/dmcn.15334
Abstract: Using Niemann–Pick type C disease (NPC) as a paradigm, we aimed to improve biomarker discovery in patients with neurometabolic disorders. read more here.
Keywords: neurometabolic disorders; niemann pick; pick type; type disease ... See more keywords
Utility of Seizure Pattern and Related Clinical Features in the Diagnosis of Neurometabolic Disorders
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DOI: 10.22037/ijcn.v14i1.24292
Abstract: Objectives The current study aimed at identifying the role of seizure types and related clinical features in differentiation between neurometabolic disorders and other causes of seizure. Materials & Methods The current cross sectional study was… read more here.
Keywords: neurometabolic disorders; clinical features; utility seizure; seizure ... See more keywords
Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns
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DOI: 10.3390/life11111244
Abstract: Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a… read more here.
Keywords: approach neurological; channelopathies neurometabolic; neurological channelopathies; neurometabolic disorders ... See more keywords
Ataxia in Neurometabolic Disorders
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DOI: 10.3390/metabo13010047
Abstract: Ataxia is a movement disorder that manifests during the execution of purposeful movements. It results from damage to the structures of the cerebellum and its connections or the posterior cords of the spinal cord. It… read more here.
Keywords: neurometabolic disorders; diagnosis; ataxia neurometabolic;