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Official Journal of the
Society for the Study of Inborn Errors of Metabolism
F. Vecchio, F. Carnevale, G. Paganetti, G. di Bitonto, R. Penza and G. Francioso
Journal Article
Methylmalonacidurie Formen, Diagnostik und Therapie
Dorothea Leupold
Journal of Molecular Medicine, 1977, Volume 55, Number 2, Pages 57-63
Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years
M. D. Bain, J. Till, M. G. Jones, G. T. N. Besley and P. Lee, et al.
Journal of Inherited Metabolic Disease, 2005, Volume 28, Number 6, Pages 1179-1180
Methylmalonic acidemia
Ichiro Matsuda, Takanori Terashima, Jiro Yamamoto, Izumi Akaboshi and Shigeru Shinozuka, et al.
European Journal of Pediatrics, 1978, Volume 128, Number 3, Pages 181-186
Evaluation of cofactor responsiveness
J. V. Leonard and P. Daish
Journal of Inherited Metabolic Disease, 1985, Volume 8, Supplement 1, Pages 17-19
Neonatal 5-oxoprolinuria: Difficult-to-diagnose?
I. S. Mendelson, E. Christie, W. A. Zaleski, S. L. MacKenzie and V. P. Wellner, et al.
Journal of Inherited Metabolic Disease, 1983, Volume 6, Number 1, Pages 44-48
Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase
Ana Maria Crane, Laura S. Martin, David Valle and Fred D. Ledley
Human Genetics, 1992, Volume 89, Number 3, Pages 259-264
Causes of and diagnostic approach to methylmalonic acidurias
B. Fowler, J. V. Leonard and M. R. Baumgartner
Journal of Inherited Metabolic Disease, 2008, Volume 31, Number 3, Pages 350-360
Book Chapter
Subdural Hematoma in Children
Guy Rutty and M.V. Waney Squier
2006, Essentials of Autopsy Practice, Pages 131-153
Lessons Learned from The Mouse Model of Short-Chain Acyl-CoA Dehydrogenase Deficiency
Philip Wood, C. Kelly-Kurtz, Myron Hinsdale, Doug Hamm and William Rhead
Advances in Experimental Medicine and Biology, 2006, Volume 466, Current Views of Fatty Acid Oxidation and Ketogenesis, Pages 395-402
The Use of [9,10-3H]Myristate, [9,10-3H]Palmitate and [9,10-3H]Oleate for the Detection and Diagnosis of Medium and Long-Chain Fatty Acid Oxidation Disorders in Intact Cultured Fibroblasts
S. Olpin, N. Manning, R. Pollitt, J. Bonham and 1]M. Downing, et al.
Advances in Experimental Medicine and Biology, 2006, Volume 466, Current Views of Fatty Acid Oxidation and Ketogenesis, Pages 321-325
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