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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hartnup disease
Comorbidity C0442874|neuropathy
Sentences 9
PubMedID- 23197742 Compound charcot-marie-tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel mpz mutation.
PubMedID- 21840889 These are congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and dejerine–sottas neuropathy, starting in infancy.
PubMedID- 22996176 Corneal confocal microscopy detects small-fiber neuropathy in charcot-marie-tooth disease type 1a patients.
PubMedID- 19921145 Exclusion criteria were: patients with concomitant foot ulcers, orthopaedic or surgical problems affecting gait variables, non-diabetic neuropathy (due to charcot–marie–tooth disease or alcohol), other neurological pathologies (other than peripheral neuropathy) that could influence gait variables or inability to walk a minimum of 500 m without a walking aid.training programmes started as soon as enough patients (20 to 28 per group) had been recruited, i.e.
PubMedID- 22900182 Patients were excluded if they had concomitant foot ulcer, orthopaedic or surgical problems influencing gait parameters, a nondiabetic neuropathy (due to charcot-marie-tooth disease, alcohol, or thyroid dysfunction), or neurological pathology influencing gait parameters.
PubMedID- 23797954 Importance: no current medications improve neuropathy in subjects with charcot-marie-tooth disease type 1a (cmt1a).
PubMedID- 21274281 This demonstrates a rather different phenotype, referred to as charcot-marie-tooth disease type 1a with demyelinating neuropathy [11–13].
PubMedID- 26077806 Optic neuropathy due to cat scratch disease (csd) is a rare occurrence associated with macular star formation and is characterised by sudden mostly unilateral painless loss of vision.
PubMedID- 21271032 Optic neuropathy due to cat scratch disease is a relatively infrequent occurrence associated with macular star formation and is characterized by sudden painless loss of vision mostly unilateral.

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