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126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia.Defects in PEX3 are associated with a severe neonata
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