担心
发表于 2025-3-23 10:14:03
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CODA
发表于 2025-3-23 15:00:35
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
ADAGE
发表于 2025-3-23 20:33:58
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Adjourn
发表于 2025-3-23 23:38:18
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大量
发表于 2025-3-24 02:40:00
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
发表于 2025-3-24 06:34:37
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...:
使无效
发表于 2025-3-24 10:45:08
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intuition
发表于 2025-3-24 16:44:15
Der/die Herausgeber bzw. der/die Autor(en), exklusiv lizenziert an Springer-Verlag GmbH, DE, ein Tei
DEAF
发表于 2025-3-24 21:26:26
Overview: 978-3-476-99629-9
Barter
发表于 2025-3-25 00:45:21
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