Jan 1, 1980
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Lysosomal storage diseases and related disorders are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Here is the latest research on lysosomal storage diseases.
Prenatal diagnosis has enabled the detection of chromosomal abnormalities as well as single gene disorders and led to substantive improvements in the detection of congenital anomalies. Here is the latest research.