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Laila Begum

Kagoshima University

13

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A case of adult-onset type II citrullinemia - deterioration of clinical course after infusion of hyperosmotic and high sugar solutions.

2006 Medical Science Monitor
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Reduced N-Acetylaspartate Levels in Mice Lacking Aralar, a Brain- and Muscle-type Mitochondrial Aspartate-glutamate Carrier

2005 Journal of Biological Chemistry
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2-III-6 Citrin欠損症における多彩な症状は細胞質NADH蓄積に起因する?(第56回大会一般研究発表)

2004
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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

2003 Human Mutation
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Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2

2002 Biochimica et Biophysica Acta
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Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin

2001 Advances in Enzyme Regulation
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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

1999 Nature Genetics
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