Literature DB >> 27037922

Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.

Tanyel Zubarioglu1, Ertugrul Kiykim2, Mehmet Serif Cansever3, Cigdem Aktuglu Zeybek2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27037922     DOI： 10.1007/s12098-016-2077-3

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


× No keyword cloud information.
  3 in total

1.  Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Authors:  M A Cleary; L Dorland; T J de Koning; B T Poll-The; M Duran; R Mandell; V E Shih; R Berger; S E Olpin; G T N Besley
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy.

Authors:  Monique G M de Sain-van der Velden; Piero Rinaldo; Bert Elvers; Mick Henderson; John H Walter; Berthil H C M T Prinsen; Nanda M Verhoeven-Duif; Tom J de Koning; Peter van Hasselt
Journal:  JIMD Rep       Date:  2012-02-24

3.  Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.

Authors:  T Wang; A M Lawler; G Steel; I Sipila; A H Milam; D Valle
Journal:  Nat Genet       Date:  1995-10       Impact factor: 38.330
  3 in total
  1 in total

1.  High Branched-Chain Amino Acid Concentrations Are Found in Preterm Baboons Receiving Intravenous Amino Acid Solutions and Mimic Alterations Found in Preterm Infants.

Authors:  Cynthia Blanco; Lisa McGill-Vargas; Cun Li; Lauryn Winter; Peter Nathanielsz
Journal:  JPEN J Parenter Enteral Nutr       Date:  2019-02-07       Impact factor: 4.016
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.