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Results 1 - 10 of 23 for NMR
  1. Aminoacylase 1 deficiency 
    ... Calvin J, Hart C, Omran H, Wevers RA. NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed. 2008 Feb;21(2):138-47. doi: ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  2. Pantothenate kinase-associated neurodegeneration 
    ... an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder. ...
    https://medlineplus.gov/...enate-kinase-associated-neurodegeneration - Genetics
  3. Periventricular heterotopia 
    ... around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Affected individuals usually have ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - Genetics
  4. Isolated Duane retraction syndrome 
    ... Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane' ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  5. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 
    ... called white matter that can be seen with magnetic resonance imaging (MRI).The age at which the signs and ...
    https://medlineplus.gov/...cortical-infarcts-and-leukoencephalopathy - Genetics
  6. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... changes in the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  7. COL4A1-related brain small-vessel disease 
    ... called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and ...
    https://medlineplus.gov/...col4a1-related-brain-small-vessel-disease - Genetics
  8. Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
    ... called white matter that can be seen with magnetic resonance imaging (MRI).Muscle cramps experienced by most people with ...
    https://medlineplus.gov/...athy-aneurysms-and-muscle-cramps-syndrome - Genetics
  9. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... of people with LBSL can be seen using magnetic resonance imaging (MRI). These characteristic abnormalities typically involve particular parts ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  10. Spinocerebellar ataxia type 3 
    ... L, Wang X, Tang B. The correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-3 - Genetics
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