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Molecular Genetics and Metabolism, Vol. 75, Iss. 2, 2002-02 ,pp. : 178-180

Elsevier

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Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency

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Academic Press

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Strategy used to overcome graft atrophy in auxiliary partial orthotopic liver transplantation from a living donor for ornithine transcarbamylase deficiency

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Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

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A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

By Deschauer M.   Chrzanowska-Lightowlers Z.M.A.   Biekmann E.   Pourfarzam M.   Taylor R.W.   Turnbull D.M.   Zierz S.  

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