Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1062-7
Reference19 articles.
1. Aoki Y, Suzuki Y, Li X, et al (1997) Characterization of mutant holocarboxylase synthetase (HLCS): a K m for biotin was not elevated in a patient with HLCS deficiency. Pediatr Res 42: 849–854. doi: 10.1203/00006450-199712000-00021 .
2. Dupuis L, Campeau E, Leclerc D, et al (1999) Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Mol Genet Metab 66: 80–90. doi: 10.1006/mgme.1998.2785 .
3. Gibson KM, Bennett MJ, Naylor EW, et al (1998) 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J Pediatr 132: 519–523. doi: 10.1016/S0022-3476(98)70032-0 .
4. Gompertz D, Draffan GH, Watts JL, et al (1971) Biotin-responsive 3-methylcrotonyglycinuria. Lancet 298(7714): 22–24. doi: 10.1016/S0140-6736(71)90009-2 .
5. Hoffmann G, Aramaki S, Blum-Hoffmann E, et al (1989) Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem 35: 587–595.
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1. A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns;Children;2023-08-03
2. Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency;Molecular Genetics and Metabolism Reports;2022-12
3. Inherited biotin-responsive disorders;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
4. Specificity and selectivity in post-translational biotin addition;Biochemical Society Transactions;2018-10-31
5. Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency;JIMD Reports;2015
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