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Literatur / Religion978-3-476-04694-9Series ISSN 2520-8810 Series E-ISSN 2520-8829闲荡 发表于 2025-3-22 10:09:41
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Markus Kleinertgamma gene. In some patients hypoglycemia may define the initial disease presentation well before the onset of the classical Alpers’ triad of psychomotor retardation, intractable seizures, and liver failure. Correlating with the genotype, . pathogenicity is a result of increased mitochondrial DNA mu离开 发表于 2025-3-22 18:49:55
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Józef Niewiadomskihe study group consisted of eight patients from a single Bedouin family with clinically and molecularly diagnosed Fanconi–Bickel syndrome who had been followed at the same tertiary medical center for 8 years or more. All were homozygous for the p.R310X mutation. The medical files were reviewed for pBRIEF 发表于 2025-3-23 01:24:47
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