Titlebook: Lysosomal Storage Disorders; John A. Barranger,Mario A. Cabrera-Salazar Book 2007 Springer-Verlag US 2007 Glycogen.Lipid.Polysaccharid.enz

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The GM1 Gangliosidoses,body. They manifest a predominantly neurological phenotype, a fact that is probably related to their high prevalence in nervous tissues. The typical presentation is that of a progressive neurodegenerative disease with onset in early life followed by loss of acquired developmental milestones, dementi

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Tailor

,Acid Sphingomyelinase-Deficient Niemann–Pick Disease, numerous reports of infants with similar clinical manifestations appeared, and in 1927 Ludwig Pick distinguished this disorder from infantile Gaucher disease based on the differential appearance of the bone marrow foam cells (Pick, 1927). The first adults with this disease were described in 1946 (P

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Krabbe Disease (Globoid Cell Leukodystrophy),atural activator/ protective protein, saposin A. The latter was first established in a mouse model, but the first human GLD patient due to saposin A deficiency has very recently been discovered. The primary natural substrate of the enzyme, galactosylceramide, is nearly exclusively localized in the m

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Doug Brooks,Emma Parkinson-Lawrencere professionals spend thousands of hours studying the science and technology of healthcare, and years or even decades putting into practice recent findings in molecular biology, clinical diagnostics, and therapeutics. By contrast, the topic of leadership and the traits of effective leaders tend to

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Roscoe O. Bradyionals spend thousands of hours studying the science and technology of healthcare, and years or even decades putting into practice recent findings in molecular biology, clinical diagnostics, and therapeutics. By contrast, the topic of leadership and the traits of effective leaders tend to receive re