Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population

European Journal of Neurology

Volumn 20, Issue 4, 2013, Pages

  Criscuolo, C ^a   Guacci, A ^a   Carbone, R ^a   Lieto, M ^a   Salsano, E ^b   Nanetti, L ^b   Michele, G D ^a   Filla, A ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

ABHD12; Ataxia; Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts; Refsum disease

Indexed keywords

ACYLGLYCEROL LIPASE; ENDOCANNABINOID;

3' UNTRANSLATED REGION; ATAXIA; CATARACT; DISORDERS OF PEROXISOMAL FUNCTIONS; FRIEDREICH ATAXIA; GENE EXPRESSION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HYDROCEPHALUS; ITALY; LETTER; LIPOFUSCINOSIS; METABOLIC DISORDER; NARP SYNDROME; OLIVOPONTOCEREBELLAR ATROPHY; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; POLYNEUROPATHY; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGE OF ONSET; ATAXIA; CATARACT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; MONOACYLGLYCEROL LIPASES; MUTATION; POLYNEUROPATHIES; RETINITIS PIGMENTOSA; SYNDROME; YOUNG ADULT;

EID: 84875020497     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12056     Document Type: Letter

References (4)

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