tympanometry
发表于 2025-3-25 03:21:14
Planspiele mit Rothäuten und Engländernikation mit dem Titel „Unternehmungssspiele“ (Au tor: Knut Bleicher) findet sich nicht zufällig in Dieter Kühns Essay sammlung „Unternehmen Rammbock“. Möglichkeiten durchspie len, Was-wäre-wenn, Simulieren: Diese bei Kühn gelegentlich zum se riellen Schreibzwang herabgekommene Versuchshaltung (eben
GENUS
发表于 2025-3-25 07:35:36
gene to address the question of whether G360R is a mutational hot spot or the result of a founder effect, as it has been repeatedly found in alkaptonuric patients from a geographic isolate in Italy..For G360R and single nucleotide polymorphism genotyping, high-resolution melting analysis was perform
evanescent
发表于 2025-3-25 13:37:47
Roul Hübner,Erhard Schützdisorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis and consideration of therapies before irreversible complications occur. In cross-country study, we utilized dried blood spots (DBS) of 1,033 patients
同来核对
发表于 2025-3-25 19:53:15
synthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms... We present a retrospective descriptive multicentric study concerning ten French children with a biochemical and molecular confirmed diagnosis of AADC deficiency... Clinic
temperate
发表于 2025-3-25 22:01:09
Bernd Witteof the neuropil followed by demyelination, gliosis and capillary proliferation caused by mutations in one of over 75 different genes, including nuclear- and mitochondrial-encoded genes, most of which are associated with mitochondrial respiratory chain function. In this study, we report a patient wit
thwart
发表于 2025-3-26 04:11:23
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词汇
发表于 2025-3-26 04:36:47
Erhard Schützd by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A
flaunt
发表于 2025-3-26 12:20:52
Hans G. Helmsy but was diagnosed with ARD at the age of 10 on basis of phytanic acidaemia and later confirmed to have the phytanoyl-CoA hydroxylase (. c.164delT, p.L55fsX12) mutation. Despite repeated plasmapheresis sessions and strict dietary surveillance for 20 years, her phytanic acid levels persistently stay
解开
发表于 2025-3-26 13:34:28
Manfred Jäger) in the USA. Additional ERT products are in clinical trials. The most common ERT adverse events are infusion reactions (IR). While IR are often defined as hypersensitivity or anaphylactoid reactions occurring concurrently with (i.e., during) infusion administration (CIR), there exists the potential
Capture
发表于 2025-3-26 20:19:05
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