Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy

By Yano S.   Moseley K.   Pavlova Z.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 53-57

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Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation

By Remérand G.   Merlin E.   Froissart R.   Brugnon F.   Kanold J.   Janny L.   Deméocq F.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 111-113

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Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation

By Adachi Masanori   Shinkai Masato   Ohhama Youkatsu   Tachibana Katsuhiko   Kuratsuji Tadatoshi   Saji Hiroh   Maruya Etsuko  

European Journal of Pediatrics, Vol. 163, Iss. 4-5, 2004-04 ,pp. : 202-206

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Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I

By Mühlhausen C.   Mühlhausen C.   Christensen E.   Schwartz M.   Muschol N.   Ullrich K.   Lukacs Z.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 7, 2003-01 ,pp. : 713-714

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Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia

By Schwab Karl   Doerfer Jürgen   Krebs Andreas   Krebs Kristin   Schorb Elisabeth   Hallermann Kristiane   Superti-Furga Andrea   Zieger Barbara   März Winfried   Schmidt-Trucksäss Arno   Winkler Karl  

European Journal of Pediatrics, Vol. 166, Iss. 6, 2007-06 ,pp. : 541-548

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