Title: Physician's guide to the laboratory diagnosis of metabolic diseases /
Authors: Blaskovics, Milan E.; Blau, Nenad.; Duran, Marinus.; Blau, N. 1946-
Publisher: Chapman & Hall,
Year: 1996
Subjects: Diagnosis, Differential; Clinical Laboratory Techniques; Metabolism, Inborn Errors diagnosis; Metabolic Diseases diagnosis; Metabolism, Inborn errors of Diagnosis.
Contents: Foreword / Charles R. Scriver -- pt. 1. Approach to Diagnosis. A. Simple tests in urine and blood / Nenad Blau, Milan E. Blaskovics and Marinus Duran. B. Amino acid analysis / Vivian E. Shih. C. Organic acid analysis / Georg F. Hoffmann. D. Miscellaneous analyses / Marinus Duran -- pt. 2. Disorders. 1. Hyperphenylalaninemia / Nenad Blau and Milan E. Blaskovics. 2. Disorders of neurotransmitter metabolism / Keith Hyland, Italo Biaggioni, Orly N. Elpeleg, Torbjoern G. Nygaard and K. Michael Gibson. 3. GABA metabolism defects / Jaak Jaeken. 4. Tyrosinemia / Ruud Berger. 5. Disorders of histidine metabolism / Yasuhiro Kuroda and Michinori Ito. 6. Disorders of leucine metabolism / K. Michael Gibson, Orly N. Elpeleg and Rebecca S. Wappner. 7. Disorders of valine-isoleucine metabolism / William L. Nyhan. 8. Various organic acidurias / Cornelis Jakobs, Nanda M. Verhoeven and Marjo S. van der Knaap. 9. Disorders of the [gamma]-glutamyl cycle / Agne Larsson and Alton Meister.