Literature DB >> 6434868

The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC-MS assay for succinylacetone.

B R Pettit, F MacKenzie, G S King, J V Leonard.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6434868     DOI： 10.1007/978-94-009-5612-4_42

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  3 in total

1.  Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

Authors:  J L Aponte; G A Sega; L J Hauser; M S Dhar; C M Withrow; D A Carpenter; E M Rinchik; C T Culiat; D K Johnson
Journal:  Proc Natl Acad Sci U S A       Date:  2001-01-16       Impact factor: 11.205

2.  Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry.

Authors:  C Jakobs; E A Kvittingen; R Berger; A Haagen; W Kleijer; M Niermeijer
Journal:  Eur J Pediatr       Date:  1985-07       Impact factor: 3.183

3.  mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model.

Authors:  Maximiliano L Cacicedo; Christine Weinl-Tenbruck; Daniel Frank; Sebastian Wirsching; Beate K Straub; Jana Hauke; Jürgen G Okun; Nigel Horscroft; Julia B Hennermann; Fred Zepp; Frédéric Chevessier-Tünnesen; Stephan Gehring
Journal:  Mol Ther Methods Clin Dev       Date:  2022-07-15       Impact factor: 5.849
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.