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Persistent hypermethioninaemia with dominant inheritance

  • Published:1992-03 Issue:2 Volume:15 Page:188-197
  • ISSN:0141-8955
  • Container-title:Journal of Inherited Metabolic Disease
  • language:en
  • Short-container-title:J Inherit Metab Dis

Author:

Blom H. J.,Davidson A. J.,Finkelstein J. D.,Luder A. S.,Bernardini I.,Martin J. J.,Tangerman A.,Trijbels J. M. F.,Mudd S. H.,Goodman S. I.,Gahl W. A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 18 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China;Clinica Chimica Acta;2022-08

2. Biochemical Phenotypes of Questionable Clinical Significance;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

3. Analysis of five cases of hypermethioninemia diagnosed by neonatal screening;Journal of Pediatric Endocrinology and Metabolism;2019-12-19

4. Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia;Molecular Genetics and Metabolism Reports;2017-12

5. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options;Journal of Inherited Metabolic Disease;2015-12-07
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