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Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect

Rossella Parini, Francesca Furlan, Arianna Brambilla, Daniela Codazzi, Sergio Vedovati, C. Corbetta, Tiziana Fedeli, B. Merinero, Belén Pérez, Magdalena Ugarte

JIMD Reports · 2013 · 11 citations · 9 references

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9

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 – From blood spot to screening result

J.G. Loeber, Peter Burgard, Martina C. Cornel et al. · Journal of Inherited Metabolic Disease · 2012 · 200 citations

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Inborn errors of cobalamin absorption and metabolism

David Watkins, David S. Rosenblatt · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2011 · 200 citations

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Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>Metabolism

David Coelho, Terttu Suormala, Martin Stucki et al. · New England Journal of Medicine · 2008 · 169 citations · Full text

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Homocystinuria with methylmalonic aciduria: Two cases in a sibship

Stephen I. Goodman, Paul G. Moe, Keith Hammond et al. · Biochemical Medicine · 1970 · 139 citations

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The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Terttu Suormala, Matthias R. Baumgartner, David Coelho et al. · Journal of Biological Chemistry · 2004 · 119 citations · Full text

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