Titlebook: JIMD Reports - Case and Research Reports, Volume 13; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag

IDEAS

,Vestibular and Saccadic Abnormalities in Gaucher’s Disease,rosidase deficiency, resulting in multi-organ pathology. GD type III has a progressive neurological involvement. We studied the vestibular and saccadic abnormalities in GD type III to determine if these parameters may be useful for assessing neurological involvement. We evaluated the vestibular and

創(chuàng)新

Evaluation of Physiological Amino Acids Profiling by Tandem Mass Spectrometry,ninhydrin derivatization and UV detection at two wavelengths. Unfortunately, the technique presents some drawbacks such as long run time, large sample volume, and specific costs associated to the maintenance of a dedicated instrument. Therefore, we aimed to switch towards a mass spectrometry approac

Immunotherapy

聯(lián)想記憶

Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q7patients. Read-through drugs have been used to suppress premature stop codons, and this can potentially be used to treat patients who have this type of mutation. We examined the effects of aminoglycoside treatment on the IDUA mutations Q70X and W402X in cultured cells and show that 4,5-disubstituted

帶來(lái)

S. Dreha-Kulaczewski,V. Kalscheuer,A. Tzschach,H. Hu,G. Helms,K. Brockmann,A. Weddige,P. Dechent,G. Dikarya. Interestingly, the genus . is the only group of fungi among the early diverged fungi outside of the Dikarya that exhibits the yeast–hyphae transition. Their morphogenic switch is controlled by environmental factors such as low oxygen and high carbon dioxide concentrations. Genetically, the

cleaver