Titlebook: JIMD Reports - Case and Research Reports, 2012/1; c/o ACB Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherit

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Functional Characterization of Five , Missense Mutations Found in Argentinean Variegate Porphyria Prphyria in Argentina. This autosomal dominant disorder is clinically characterized by skin lesions and/or acute neurovisceral attacks. The precise diagnosis of patients with a symptomatic VP is essential to provide accurate treatment. It is also critical to identify asymptomatic relatives to avoid p

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,Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis,ment of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder...: AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation of undigested oligosaccharides. The symptoms of AMD consist of

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Book 2012JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

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https://doi.org/10.1007/978-3-642-25752-0endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease

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978-3-642-25751-3SSIEM and Springer-Verlag Berlin Heidelberg 2012