Titlebook: JIMD Reports, Volume 15; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 endo

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,Phenotypic Variability in Patients with Fanconi–Bickel Syndrome with Identical Mutations,he study group consisted of eight patients from a single Bedouin family with clinically and molecularly diagnosed Fanconi–Bickel syndrome who had been followed at the same tertiary medical center for 8 years or more. All were homozygous for the p.R310X mutation. The medical files were reviewed for p

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Successful Management of Enzyme Replacement Therapy in Related Fabry Disease Patients with Severe Aecessitating dose reductions or switching to agalsidase alfa in some patients...: We present two cases of Fabry disease (a parent and a child) who received agalsidase beta for 27?months at the licensed dose and 10?months at a reduced dose, followed by a switch to agalsidase alfa for 28?months..., a

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Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Diate cases. Here we report on such an atypical type B patient who died at 31?years of age from liver failure. This male subject was first seen in a paediatric department at the age of 3?years because of significant hepatosplenomegaly. Foam cells in bone marrow, interstitial pneumonitis, a slight faci

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CDF II and the CMS tracking detectors.Covers both small striIn the post era of the Z and W discovery, after the observation of Jets at UA1 and UA2 at CERN, John Ellis visioned at a HEP conference at Lake Tahoe, California in 1983 “To proceed with high energy particle physics, one has to tag the avou

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James J Pitt,Frank Willis,Nicholas Tzanakos,Ruth Belostotsky,Yaacov Frishberg California in 1983 “To proceed with high energy particle physics, one has to tag the avour of the quarks!” This statement re ects the need for a highly precise tracking device, being able to resolve secondary and tertiary vertices within high-particle densities. Since the d- tance between the prima

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Anne Roubergue,Bertrand Philibert,Agnès Gautier,Alice Kuster,Karine Markowicz,Thierry Billette de ViCDF II and the CMS tracking detectors.Covers both small striIn the post era of the Z and W discovery, after the observation of Jets at UA1 and UA2 at CERN, John Ellis visioned at a HEP conference at Lake Tahoe, California in 1983 “To proceed with high energy particle physics, one has to tag the avou

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