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See Latest ArticlesCarbonic Anhydrase II Deficiency: A Novel Mutation
Indian Pediatrics, 06/30/09
Nampoothiri S et al. - Carbonic anhydrase II deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12-year-old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation.T
Sheela Nampoothiri , 07/08/09
| Carbonic anhydrase II deficiency is extremely rare but this diagnosis should be entertained in the diffential diagnosis when we encounter a child who is presenting with oseopetrosis as the prognosis and management are different |
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Variants in the UGT1A1 Gene and the Risk of Pediatric Nonalcoholic Fatty Liver Disease
Pediatrics, 12/02/09
The Behavioral Phenotype of School-Age Children with Shwachman Diamond Syndrome Indicates Neurocognitive Dysfunction with Loss of Shwachman-Bodian-Diamond Syndrome Gene Function
The Journal of Pediatrics, 12/02/09
In Utero Iron Status and Auditory Neural Maturation in Premature Infants as Evaluated by Auditory Brainstem Response
The Journal of Pediatrics, 12/02/09
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