Optimizing the Diagnostic Strategy to Identify Genetic Abnormalities in Miscarriage
نویسندگان
چکیده
منابع مشابه
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.
Fabry disease is inherited as an X-linked disorder secondary to deficiency of alpha-galactosidase A, resulting in abnormal metabolism of substances containing alpha-d-galactosyl moieties. As a consequence, a multisystem disorder develops, culminating in strokes, progressive renal, and cardiac dysfunction. Signs and symptoms of Fabry disease become manifest in childhood, but diagnosis is often d...
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ژورنال
عنوان ژورنال: Molecular Diagnosis & Therapy
سال: 2021
ISSN: 1177-1062,1179-2000
DOI: 10.1007/s40291-021-00523-9