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Search results for “GLUTARIC ACIDURIA TYPE I”

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14 results found

Glutaric aciduria type 1

Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. It has a highly variable clinical presentation, and laboratory investigations are not always diagnostic. Imaging, therefore, has an important role to play as the MRI features can be characteristic. ...

Glutaric aciduria (type 1)

Diagnosis certain

Peter Zuidewind

Published 24 Mar 2023

Glutaric aciduria type I

Diagnosis almost certain

Mohammad A. ElBeialy

Published 11 Oct 2013

Glutaric aciduria type 1

Diagnosis almost certain

Elena Filimonova

Published 27 Sep 2021

Glutaric aciduria type 1

Diagnosis almost certain

Published 10 Apr 2014

Glutaric aciduria type 1

Diagnosis almost certain

Published 02 Aug 2023

Glutaric aciduria type 1

Diagnosis almost certain

Published 24 Dec 2012

Glutaric aciduria type 1

Diagnosis probable

Ahmed Elhusseiny

Published 09 Feb 2024

Glutaric aciduria type 1

Diagnosis possible

Published 16 Mar 2022

Central nervous system curriculum

The central nervous system curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core central nervous system knowledge. Definition Topics pertaining to the intracranial content (brain, pituitary, dura, intracranial vasculatures). There will be...

Cerebral restricted diffusion

The following intracranial lesions may show a high signal on DWI images, with a corresponding low signal on ADC images. lesions with intense high signal acute ischemia meningiomas abscess empyema cytotoxic cerebral edema chordoma intracranial epidermoid cyst Creutzfeldt-Jakob disease 6 ...

Subdural hemorrhage

Subdural hemorrhage/hematoma (SDH) is a collection of blood accumulating in the subdural space. Subdural hemorrhage can happen in any age group, is mainly due to head trauma and CT scans are usually sufficient to make the diagnosis. Prognosis varies widely depending on the size and chronicity of...

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a rare organic aciduria but has characteristic MRI findings especially in the early stages 1. This can allow for early diagnosis, often prior to biochemical investigations. Epidemiology As it is inherited in an autosomal recessive fashion, consanguineous marriag...

Benign enlargement of the subarachnoid spaces (BESS)

Diagnosis certain

Published 09 Jan 2020

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