crutch
发表于 2025-3-26 23:49:32
Johannes Zschocke,Matthias Baumgartner,Verena PeteUnique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed
浸软
发表于 2025-3-27 03:05:25
JIMD Reportshttp://image.papertrans.cn/j/image/500060.jpg
挡泥板
发表于 2025-3-27 05:41:47
2192-8304 disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.978-3-662-47452-5978-3-662-47453-2Series ISSN 2192-8304 Series E-ISSN 2192-8312
ferment
发表于 2025-3-27 10:52:59
2192-8304 tabolic disorders.All contributions rigorously peer-reviewedJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder or serve as an important reminder of clinical
TSH582
发表于 2025-3-27 17:34:24
Mitochondrial Complex III Deficiency Caused by , Defects: Report of a Novel Mutation and Review of 19, a putative assembly factor for cIII. To date . mutations have been reported only in few cases, invariably associated with cIII deficiency, but presenting heterogeneous clinical phenotypes. We reviewed the genetic, biochemical, clinical and neuroradiological features of . mutant patients described to date.
FOIL
发表于 2025-3-27 19:14:35
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism,ted low CSF and plasma asparagine in both patients...: Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low.
spinal-stenosis
发表于 2025-3-28 01:38:54
Wladimir Mauhin,Olivier Lidove,Elisa Masat,Federico Mingozzi,Kuberaka Mariampillai,Jean-Marc Ziza,Olt hat, hat uns viel neue Information geliefert, die zwar den Spielraum unserer Optionen einengt, doch immer noch einander widersprechende Interpretationen erlaubt. Was ich jetzt hier vorlege, ist alles andere als das letzte Wort in einem noch andauernden Meinungsstreit. Weitere Forschungsarbeit wird
epicardium
发表于 2025-3-28 05:35:43
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lambaste
发表于 2025-3-28 07:36:50
Michel Mazzuca,Marie-Anne Maubert,Léna Damaj,Fabienne Clot,Marylène Cadoudal,Christele Dubourg,Sylviabolism..This chapter will provide an overview of the influence of the gut microbial community on host metabolism. By highlighting selected studies, the crucial function of the gut bacteria will be demonstrated. Current and future options to modulate a dysbiotic microbiota in order to improve host m
HIKE
发表于 2025-3-28 14:25:46
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