The neurology of carbonic anhydrase type II deficiency syndrome

Brain

Volumn 134, Issue 12, 2011, Pages 3499-3512

  Bosley, Thomas M ^a   Salih, Mustafa A ^a   Alorainy, Ibrahim A ^a   Islam, M Zahidul ^a   Oystreck, Darren T ^a   Suliman, Omer S M ^b   Malki, Salem Al ^a   Suhaibani, Adel H ^a   Khiari, Hattan ^a   Beckers, Sigri ^c   Van Wesenbeeck, Liesbeth ^c   Perdu, Bram ^c   Aldrees, Abdulmajeed ^a   Elmalik, Salah A ^a   Van Hul, Wim ^c   Abu Amero, Khaled K ^a,d  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b Al Rass General Hospital ^*  (Saudi Arabia)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

carbonic anhydrase type II deficiency; marble brain disease; optic neuropathy; osteopetrosis; renal tubular acidosis

Indexed keywords

CARBONATE DEHYDRATASE II;

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN CALCIFICATION; BRAIN STEM; CARBONIC ANHYDRASE TYPE II DEFICIENCY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; ENZYME DEFICIENCY; EYE MOVEMENT; FEMALE; GRAY MATTER; HUMAN; INTRON; KIDNEY TUBULE ACIDOSIS; MALE; MENTAL DEFICIENCY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROLOGY; NEUROOPHTHALMOLOGY; NEURORADIOLOGY; OPTIC NERVE; OSTEOPOROSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RETINA; RNA SPLICING; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SHORT STATURE; STRABISMUS; TENDON REFLEX; THALAMUS;

EID: 83755205958     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awr302     Document Type: Conference Paper

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