The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
The Antenatal Diagnosis and Aid to the Management of Hereditary Tyrosinaemia by Use of a Specific and Sensitive GC—MS Assay for Succinylacetone
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SA accumulation is unique to FAH deficiency.
“SA accumulation is unique to FAH deficiency (6, 7)”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [7]
Elevation of SA above normal levels (in serum, urine, and/or amniotic fluid) is the specific diagnostic indicator for HT1.
“Elevation of SA above normal levels (in serum, urine, and/or amniotic fluid) is the specific diagnostic indicator for HT1 (6, 7, 9, 37, 38).”
From Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1 (2001) · cites this paper as [7]
Citations
Cites
On the enzymic defects in hereditary tyrosinemia.
Lindblad, B., Lindstedt, S., & Steen, G. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.10.4641 · Cited by 447
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Research works printed but not linked: 4
- Berger, R., Smit, G. P. A., Stoker-de Vries, S. A., Duran, M., Ketting, D. and Wadman, S. K. Deficiency of fumaryaceto-acetase in a patient with hereditary tyrosinemia. Clin. Chim. Acta 114 (1981) 37–44. · DOI
- Christensen, E., Brock Jacobsen, B., Gregersen, N., Hjeds, H., Pedersen, J. B., Brandt, N. and Baeckmark, U. B. Urinary. excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia. Clin. Chim. Acta 116 (1981) 331–341. · DOI
- Gangné, R., Lescault, A., Grenier, A., Laberge, C., Melancon, S. B. and Dallaire, L. Prenatal diagnosis of tyrosinaemia: Measurement of succinylacetone in amniotic fluid. Prenat. Diag. 2 (1982) 185–188. · DOI
- Grenier, A., Lescault, A., Laberge, C., Gangne, R. and Mamer, O. Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia. Clin. Chim. Acta 123 (1982) 93–99. · DOI · Paper page
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Aponte, J. L., Sega, G. A., Hauser, L. J., Dhar, M. S., Withrow, C. M., Carpenter, D. A., Rinchik, E. M., Culiat, C. T., & Johnson, D. K. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.2.641 · Cited by 68
Metadata
- Authors
- Pettit, B. R., MacKenzie, F., King, G. S., & Leonard, J. V.
- Affiliations
- Queen Charlotte's and Chelsea Hospital (GB)
- University College London (GB)
- Venue
- Organic Acidurias
- Publisher
- Springer Netherlands
- Published
- 1984
- Volume
- 7 Suppl 2
- Pages
- 135-136
- OpenAlex
- W46315407
- Cited by
- 13
- References
- 1
- Citations by year
- 2022: 1
- FWCI
- 2.60
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Springer eBooks (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- succinylacetone, prenatal diagnosis, amniotic fluid analysis, urine analysis, trimethylsilyl derivatives, carryover
- MeSH terms
- Amino Acid Metabolism, Inborn Errors, Amniotic Fluid, Female, Heptanoates, Heptanoic Acids, Humans, Gas Chromatography-Mass Spectrometry, Pregnancy, Prenatal Diagnosis, Tyrosine
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