Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis

By Azevedo L.   Vilarinho L.   Leao Teles E.   Amorim A.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 68-70

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

By Kaibori M.   Egawa H.   Inomata Y.   Uemoto S.   Asonuma K.   Kiuchi T.   Varela-Fascinetto G.   Matsukura T.   Kasahara M.   Uryuhara K.   Inui A.   Komatsu H.   Fujisawa T.   Tanaka K.  

Transplantation Proceedings, Vol. 30, Iss. 7, 1998-11 ,pp. : 3221-3222

Elsevier

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Long-Term Treatment with Sodium Phenylbutyrate in Ornithine Transcarbamylase-Deficient Patients

By Burlina A.B.   Ogier H.   Korall H.   Trefz F.K.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 4, 2001-04 ,pp. : 351-355

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Improving Treatment of Guanidinoacetate Methyltransferase Deficiency: Reduction of Guanidinoacetic Acid in Body Fluids by Arginine Restriction and Ornithine Supplementation

By Schulze A.   Ebinger F.   Rating D.   Mayatepek E.  

Molecular Genetics and Metabolism, Vol. 74, Iss. 4, 2001-12 ,pp. : 413-419

Academic Press

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Intermittent Neutropenia as an Early Feature of Mild Mevalonate Kinase Deficiency

By Parvaneh Nima   Ziaee Vahid   Moradinejad Mohammad-Hassan   Touitou Isabelle  

Journal of Clinical Immunology, Vol. 34, Iss. 1, 2014-01 ,pp. : 123-126

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