Titlebook: Literatur - Gesellschaft - Nation; Stephan Bock Book 1980 Der/die Herausgeber bzw. der/die Autor(en), exklusiv lizenziert an Springer-Verl

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Stephan Bock Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed... 35 patients with LOPD were included in the study (17 males and 18 femal

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Adjourn

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Stephan Bock or ophthalmoplegia, we identified two novel mutations in the . gene: c.707G>C in exon 3 (p.(R236P)) and c.116_137del in exon 2 (p.(Q39Lfs*14)). Serum lactate levels at rest were elevated (12.7 mM). Both the patient’s father and brother were heterozygous carriers of the c.707G>C mutation and were as

Gyrate

ety-five % of NPC patients show mutations in the . gene. A much smaller number of patients suffer from NPC2 disease and present respiratory failure as one of the most frequent symptoms. Several plasma oxysterols are highly elevated in NPC1 and can be used as a biomarker in the diagnosis of NPC1...:

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Der/die Herausgeber bzw. der/die Autor(en), exklusiv lizenziert an Springer-Verlag GmbH, DE, ein Tei

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Overview: 978-3-476-99629-9

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