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Titlebook: Semantics: Foundations and Applications; REX Workshop, Beekbe J. W. Bakker,W. -P. Roever,G. Rozenberg Conference proceedings 1993 Springer-

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Wim H. Hesselink,Ronald Reindsn, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial eff
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W. van der Hoek,M. van Hulst,J. -J. Ch. Meyer multisystemic disease. We present cardiovascular gross and histopathology findings from a 11-year-old MPS VII male, who expired after developing ventricular fibrillation following anesthesia induction. Gross anatomic observations were made at autopsy; postmortem formalin-fixed paraffin-embedded sam
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Eiichi Horita–30% of PKU patients, Phe levels may be controlled by tetrahydrobiopterin (BH4) therapy. The European PKU 2017 Guidelines recommends treatment with BH4 for cases of proven long-term BH4 responsiveness, with a recommended dosage of Sapropterin 10–20 mg/kg/day..We report four young Irish patients with
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Marta Kwiatkowska(ERT) for 12 years. This was the first case of MPS I treated with ERT in Japan. Pathological analysis showed no glycosaminoglycan accumulation in the liver and spleen as a result of long-term ERT, although severe aortic stenosis, diffuse intimal hyperplasia of the coronary artery, and fibrous hypert
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Peter D. Mossesof childhood, preclinical and clinical data suggest secondary autoimmunity and inflammation throughout the central nervous system are key components of pathogenesis. We tested the short-term tolerability of mycophenolate in individuals with CLN3 disease, in preparation for possible long-term efficac
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Prakash Panangaden,Vijay Saraswat,P. J. Scott,R. A. G. Seelyase deficiency. HT1 is caused by homozygous or compound heterozygous mutations in the . gene. The HT1 frequency worldwide is 1:100,000–1:120,000 live births. The frequency of HT1 in the Russian Federation is unknown...: To estimate the spectrum of mutations in HT1 in several ethnic groups of the Rus
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