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Titlebook: JIMD Reports, Volume 34; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

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Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intono acid transport. The patients often present with mild respiratory symptoms, which may rapidly progress to acute respiratory failure responding poorly to conventional treatment with steroids and bronchoalveolar lavations (BALs). The pathogenesis of PAP in LPI is still largely unclear. In previous s
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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency,on a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developme
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Jun Sun,Angela J McGillivray,Jason Pinner,Zhihui Yan,Fengxia Liu,Drago Bratkovic,Elizabeth Thompson,netic relationships among the three extant orders, Anura (frogs), Caudata (salamanders), and Gymnophiona (caecilians). Several contradictory theories have been argued (Table I) [reviewed by Carroll and Holmes (1980); Gaffney (1979); Jarvik (1980); L?vtrup (1977); Saint-Au-bain (1981)]. At one extrem
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Annika Ohlsson,Helene Bruhn,Anna Nordenstr?m,Rolf H. Zetterstr?m,Anna Wedell,Ulrika von D?belncus on critical reviews, commentaries, original papers, and controversies in of the reviews range from anthropology to evolutionary biology. The topics molecular evolution, population biology to paleobiology. Recent volumes have included a broad spectrum of chapters on such subjects as population bi
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