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Journal of Inherited Metabolic Disease|July 23, 2003
Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)S Grünewald, R De Vos, J JaekenJournal of Inherited Metabolic Disease|July 23, 2003
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypesX Fu, P Rinaldo, S H Hahn, et al.Journal of Inherited Metabolic Disease|July 23, 2003
Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptomsD Penel-Capelle, D Dobbelaere, J Jaeken, et al.Journal of Inherited Metabolic Disease|July 23, 2003
Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemiaT Ito, S Sumi, K Kidouchi, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Bone marrow transplantation for Sanfilippo disease type BA Vellodi, E Young, M New, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcomeC Bannwart, B Wermuth, R Baumgartner, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical featuresR A Coleman, H S Winter, B Wolf, et al.Journal of Inherited Metabolic Disease|August 2, 2003
L-carnitine in inborn errors of metabolism: what is the evidence?J H WalterJournal of Inherited Metabolic Disease|August 2, 2003
A review of primary hereditary optic neuropathiesM Votruba, S Aijaz, A T MooreJournal of Inherited Metabolic Disease|August 2, 2003
The eye as a window to inborn errors of metabolismB T Poll-The, L J Maillette de Buy Wenniger-Prick, P G Barth, et al.Pageof 429