Literature DB >> 10682312

The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia.

L Ierardi-Curto1, P Kaplan, S Saitta, A Mazur, G T Berry.   

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Year:  2000        PMID： 10682312     DOI： 10.1023/a:1005659132147

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


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  3 in total

1.  Hepatic glutamine synthetase deficiency in fatal hyperammonemia after lung transplantation.

Authors:  M Tuchman; G R Lichtenstein; B S Rajagopal; M T McCann; E E Furth; J Bavaria; P B Kaplan; J B Gibson; G T Berry
Journal:  Ann Intern Med       Date:  1997-09-15       Impact factor: 25.391

2.  Propionic acidemia without acidemia: a case report.

Authors:  R Ramachandran; J Pietz
Journal:  J Perinatol       Date:  1995 Jan-Feb       Impact factor: 2.521

3.  Absence of acidosis in the initial presentation of propionic acidaemia.

Authors:  J H Walter; J E Wraith; M A Cleary
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1995-05       Impact factor: 5.747
  3 in total
  9 in total

1.  Anaplerotic therapy in propionic acidemia.

Authors:  Nicola Longo; Leisa B Price; Eduard Gappmaier; Nancy L Cantor; Sharon L Ernst; Carrie Bailey; Marzia Pasquali
Journal:  Mol Genet Metab       Date:  2017-07-12       Impact factor: 4.797

Review 2.  Amino acid metabolism in patients with propionic acidaemia.

Authors:  Sabine Scholl-Bürgi; Jörn Oliver Sass; Johannes Zschocke; Daniela Karall
Journal:  J Inherit Metab Dis       Date:  2010-11-27       Impact factor: 4.982

Review 3.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

4.  MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.

Authors:  James E Davison; Nigel P Davies; Martin Wilson; Yu Sun; Anupam Chakrapani; Patrick J McKiernan; John H Walter; P Gissen; Andrew C Peet
Journal:  Orphanet J Rare Dis       Date:  2011-05-09       Impact factor: 4.123

5.  Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.

Authors:  Albina Tummolo; Livio Melpignano; Antonella Carella; Anna Maria Di Mauro; Elvira Piccinno; Marcella Vendemiale; Federica Ortolani; Stefania Fedele; Maristella Masciopinto; Francesco Papadia
Journal:  J Med Case Rep       Date:  2018-04-22

6.  Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias.

Authors:  Ertugrul Kiykim; Ozge Oguz; Cisem Duman; Tanyel Zubarioglu; Mehmet Serif Cansever; Ayse Cigdem Aktuglu Zeybek
Journal:  Mol Genet Metab Rep       Date:  2021-01-30

7.  Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

Authors:  Sinziana Stanescu; Amaya Belanger-Quintana; Borja Manuel Fernandez-Felix; Pedro Ruiz-Sala; Mercedes Del Valle; Fernando Garcia; Francisco Arrieta; Mercedes Martinez-Pardo
Journal:  Amino Acids       Date:  2022-01-30       Impact factor: 3.789

Review 8.  The importance of the ionic product for water to understand the physiology of the acid-base balance in humans.

Authors:  María M Adeva-Andany; Natalia Carneiro-Freire; Cristóbal Donapetry-García; Eva Rañal-Muíño; Yosua López-Pereiro
Journal:  Biomed Res Int       Date:  2014-04-30       Impact factor: 3.411

Review 9.  Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Authors:  Matthias R Baumgartner; Friederike Hörster; Carlo Dionisi-Vici; Goknur Haliloglu; Daniela Karall; Kimberly A Chapman; Martina Huemer; Michel Hochuli; Murielle Assoun; Diana Ballhausen; Alberto Burlina; Brian Fowler; Sarah C Grünert; Stephanie Grünewald; Tomas Honzik; Begoña Merinero; Celia Pérez-Cerdá; Sabine Scholl-Bürgi; Flemming Skovby; Frits Wijburg; Anita MacDonald; Diego Martinelli; Jörn Oliver Sass; Vassili Valayannopoulos; Anupam Chakrapani
Journal:  Orphanet J Rare Dis       Date:  2014-09-02       Impact factor: 4.123
  9 in total

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