Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry

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Baykal T., Karaaslan I., Gokcay G. F., Demir F., Laleli Y., Demirkol M.

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.27, sa.6, ss.781-782, 2004 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 27 Sayı: 6
• Basım Tarihi: 2004
• Doi Numarası: 10.1023/b:boli.0000045839.08631.9d
• Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.781-782
• İstanbul Üniversitesi Adresli: Hayır

Özet

Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry.