个人长篇演说
发表于 2025-3-25 04:23:10
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BRIBE
发表于 2025-3-25 08:14:32
P. Reinhold,P. Köster-Oehlmannsubunits and assembly factors, and disorders of mitochondrial DNA maintenance, protein synthesis, cofactor biosynthesis and lipid metabolism. Mitochondrial trafficking and organelle communication at membrane contact sites are discussed in chapter 44. The complexity of underlying disease mechanisms,
合适
发表于 2025-3-25 12:09:45
W. Finke,G. Dubbel,R. Sittl or T2). Deficiencies of SCOT, T2 or the monocarboxylate transporter 1 (MCT1) present with episodes of ketoacidosis. This is often accompanied by dehydration and decreased consciousness. The organic acids usually show characteristic abnormalities in T2 deficiency but there are no specific findings i
万灵丹
发表于 2025-3-25 15:56:11
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Abnormal
发表于 2025-3-25 22:05:40
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北极人
发表于 2025-3-26 04:03:53
ine amidino transferase (AGAT) and guanidinoacetate methyltransferase (GAMT) deficiencies, and the X-linked creatine transporter (SLC6A8) deficiency. In all these disorders the common clinical hallmark is mental retardation, expressive speech delay and epilepsy; the common biochemical hallmark is ce
巧办法
发表于 2025-3-26 06:46:26
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易弯曲
发表于 2025-3-26 10:17:49
J. Sandkühler Dr. med.,J. Benrath PD Dr. med.ce NADPH production is decreased, making erythrocytes vulnerable to oxidative stress. Drug-and fava bean-induced haemolytic anaemia is the main presenting symptom of this defect. As this is a haematological disorder it is not discussed further... has been described in one patient who suffered from a
美学
发表于 2025-3-26 14:50:38
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Obvious
发表于 2025-3-26 20:28:16
B. Kröner-Herwig Dr.high energy requiring organs. The central and peripheral nervous systems, skeletal and cardiac muscle, eyes, ears, kidneys and liver are frequently involved. Some well-characterised mitochondrial syndromes are recognised, but many patients have overlapping features not corresponding to a specific sy