HIGHLIGHTS
- who: Diagnosing mucopolysaccharidosis IVA and colleagues from the Biochemical Genetics Laboratory, Greenwood, SC, USA Children`s Hospital, University of Mainz, Mainz, Germany have published the research work: Diagnosing mucopolysaccharidosis IVA, in the Journal: (JOURNAL)
- what: Two known or probable causative mutations may not be identified in all cases of MPS A diagnostic testing algorithm is presented which attempts to streamline this complex testing process. While a comprehensive review of these disorders is beyond the scope of this article, a few key differential diagnoses are described in detail to highlight specific diagnostic challenges.
SUMMARY . . .
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