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290 积分 2023-09-28 加入
Regional Brain Glucose Utilization in Adenylosuccinase-Deficient Patients Measured by Positron Emission Tomography
1天前
待确认
Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose
1天前
待确认
Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency
1天前
已完结
First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia
1天前
已完结
Déficit en adénylosuccinate lyase à révélation néonatale
1天前
已完结
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
1天前
求助中
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature
1天前
已完结
Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency
1天前
已完结
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy
1天前
已完结
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature
1天前
已完结
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