Inadequate laboratory technique for amino acid analysis resulting in missed diagnoses of homocystinuria.
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چکیده
منابع مشابه
Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.
A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria. The delayed diagnosis of homocystinuria was due to a negative prior neonatal screen which was checked when he was a breastfed healthy newborn. In the absence of an autosomal dominant family history...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 44 4 شماره
صفحات -
تاریخ انتشار 1998