X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0123-4
Reference25 articles.
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2. Brustovetsky N, Brustovetsky T, Dubinsky JM (2001) On the mechanisms of neuroprotection by creatine and phosphocreatine. J Neurochem 76: 425–434.
3. Cooper LL, Hansen RM, Darras BT, et al (2002) Rod photoreceptor function in children with mitochondrial disorders. Arch Ophthalmol 120: 1055–1062.
4. Corzo D, Gibson W, Johnson K, et al (2002) Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet 70: 1520–1531.
5. Das AM, Ullrich K, Isbrandt D (2000) Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency. J Inherit Metab Dis 23: 375–377.
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