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Transient Massive Trimethylaminuria Associated with Food Protein–Induced Enterocolitis Syndrome
Download from www.ncbi.nlm.nih.govDuplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome
Download from www.researchgate.netAcute Intermittent Porphyria: A Diagnostic Challenge
Download from doi.orgCobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient
Download from www.researchgate.netCopy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
Download from academic.oup.comLong-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
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