A rapid and sensitive prenatal diagnosis of familial amyloidotic polyneuropathy ATTR Val30Met by mass spectrometry.

Yamashita, Taro; Ando, Yukio; Ueda, Mitsuharu; Okamoto, Sadahisa; Misumi, Yohei; Nakamura, Masaaki; Takashi, Ohba; Uchino, Makoto

Yamashita, Taro; Ando, Yukio; Ueda, Mitsuharu; Okamoto, Sadahisa; Misumi, Yohei; Nakamura, Masaaki; Takashi, Ohba; Uchino, Makoto.

Affiliation

Yamashita T; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-0811, Japan. taro-yamashita@fc.kuh.kumamoto-u.ac.jp

Prenat Diagn ; 29(10): 930-3, 2009 Oct.

Article in En | MEDLINE | ID: mdl-19609897

Subject(s)

Amyloid Neuropathies, Familial/diagnosis; Mass Spectrometry/methods; Prealbumin/analysis; Prenatal Diagnosis/methods; Amniotic Fluid/chemistry; Amyloid Neuropathies, Familial/genetics; Animals; Antibodies/analysis; Antibodies/metabolism; DNA Mutational Analysis/methods; Female; Humans; Methionine/chemistry; Methionine/genetics; Mice; Mice, Transgenic; Prealbumin/genetics; Prealbumin/immunology; Prealbumin/metabolism; Pregnancy; Sensitivity and Specificity; Time Factors; Valine/chemistry; Valine/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Prenatal Diagnosis / Mass Spectrometry / Prealbumin / Amyloid Neuropathies, Familial Type of study: Diagnostic_studies / Evaluation_studies / Prognostic_studies Limits: Animals / Female / Humans / Pregnancy Language: En Journal: Prenat Diagn Year: 2009 Type: Article Affiliation country: Japan

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