Titlebook: JIMD Reports, Volume 26; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels, from a generalized peroxisomal function impairment. Increased plasma levels of very long chain fatty acids (VLCFA) and phytanic acid are biomarkers used in IRD diagnosis. Furthermore, an increased plasma level of phytanic acid is known to be associated with neurologic damage. Treatment of IRD is sy

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Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity,polysaccharidoses (MPS) to track disease and monitor treatments. We examined scoring reliability, its concurrent validity with other measures, and relationship to age in MPS type I...: Fifty-four patients with MPS I (36 with Hurler syndrome treated with hematopoietic cell transplant and 18 with atte

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News on Clinical Details and Treatment in PGM1-CDG, disorders of glycosylation (CDG) and glycogen storage diseases..This paper focuses on previously reported siblings with short stature, hypothyroidism, increased transaminases, and, in one of them, dilated cardiomyopathy (DCM). An intronic point mutation in the PGM1-gene (c.1145-222 G>T) leads to a

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Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems ofS are multisystemic conditions that affect the entire body, with variations in the clinical presentation, having specific treatments available depending on the type of MPS. Nearly all MPS disorders compromise the osteoarticular system in different ways, and virtually all patients have abnormal urina

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Causes of Death in Adults with Mitochondrial Disease,sease progression. It might therefore be expected that this variation be reflected in the age and cause of death. However, to date, little has been reported regarding the ‘end-of-life’ period and causes of death in mitochondrial disease patients. For some specific syndromes, the associated clinical

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gorithms.A new empirical tool for comparing search and optimDespite decades of work in evolutionary algorithms, there remains a lot of uncertainty as to when it is beneficial or detrimental to use recombination or mutation. This book provides a characterization of the roles that recombination and mu

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