Carbonic anhydrase II deficiency syndrome: A report of 18 new Saudi Arabian cases

Journal of Pediatric Neurology

Volumn 8, Issue 2, 2010, Pages 163-174

  Suliman, Omer S M ^a   Khedr, Mohammed A ^a   Al Ruthae, Mohammed S ^a  

^a Ministry of Health   (Saudi Arabia)

Author keywords

carbonic anhydrase II deficiency; intracranial calcification; Osteopetrosis; renal tubular acidosis

Indexed keywords

CARBONATE DEHYDRATASE II;

ADOLESCENT; ALBERS SCHOENBERG DISEASE; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; BLINDNESS; BONE MARROW; BRAIN CALCIFICATION; CARBONATE DEHYDRATASE II SYNDROME; CENTRAL NERVOUS SYSTEM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; EARLY DIAGNOSIS; FACIES; FEMALE; HEPATOSPLENOMEGALY; HUMAN; KIDNEY TUBULE ACIDOSIS; MALE; MEDICAL RECORD; NYSTAGMUS; OPTIC NERVE ATROPHY; PIGEON THORAX; PRENATAL GROWTH; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; SAUDI ARABIA; SCHOOL CHILD; SPASTICITY; STRABISMUS; THROMBOCYTOPENIA; VISUAL IMPAIRMENT;

EID: 77954703047     PISSN: 13042580     EISSN: 18759041     Source Type: Journal    
DOI: 10.3233/JPN-2010-0395     Document Type: Article

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