GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Shinka, T; Kuhara, T; Inoue, Y; Matsumoto, M; Matsumoto, I; Nakamura, H; Irimichi, H; Hasumi, K; Endo, A

Shinka, T; Kuhara, T; Inoue, Y; Matsumoto, M; Matsumoto, I; Nakamura, H; Irimichi, H; Hasumi, K; Endo, A.

Affiliation

Shinka T; Division of Human Genetics, Kanazawa Medical University, Japan.

Acta Paediatr Jpn ; 34(2): 157-65, 1992 Apr.

Article in En | MEDLINE | ID: mdl-1377861

Subject(s)

Meglutol/metabolism; Oxo-Acid-Lyases/deficiency; Acidosis/genetics; Acidosis/metabolism; Chromatography, Gas; Female; Humans; Hyperglycemia/etiology; Hyperglycemia/metabolism; Hyperglycemia/physiopathology; Infant, Newborn; Leucine Zippers/immunology; Mass Spectrometry; Meglutol/pharmacokinetics; Meglutol/urine; Metabolism, Inborn Errors; Oxo-Acid-Lyases/metabolism; Oxo-Acid-Lyases/urine; Trimethylsilyl Compounds/metabolism; Trimethylsilyl Compounds/pharmacokinetics

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Collection: 01-internacional Database: MEDLINE Main subject: Meglutol / Oxo-Acid-Lyases Type of study: Etiology_studies Limits: Female / Humans / Newborn Language: En Journal: Acta Paediatr Jpn Year: 1992 Document type: Article Affiliation country: Japan Country of publication: Australia

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