Literature DB >> 9686360

Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

D Rabier1, C Diry, A Rotig, P Rustin, B Heron, J Bardet, P Parvy, G Ponsot, C Marsac, J M Saudubray, A Munnich, P Kamoun.   

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Year:  1998        PMID： 9686360     DOI： 10.1023/a:1005391300203

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


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  6 in total

1.  Metabolism of citrulline in man.

Authors:  D Rabier; P Kamoun
Journal:  Amino Acids       Date:  1995-12       Impact factor: 3.520

2.  Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.

Authors:  A Ribes; E Riudor; R Valcárel; A Salvá; F Castelló; S Murillo; C Dominguez; A Rötig; C Jakobs
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3.  Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

Authors:  D Rabier; A Benoit; F Petit; A Chekoury; J P Bonnefont; J M Saudubray; P Kamoun
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4.  Binding of N-acetyl-L-glutamate to rat liver carbamoyl phosphate synthetase (ammonia).

Authors:  E Alonso; V Rubio
Journal:  Eur J Biochem       Date:  1983-09-15

Review 5.  Biochemical and molecular investigations in respiratory chain deficiencies.

Authors:  P Rustin; D Chretien; T Bourgeron; B Gérard; A Rötig; J M Saudubray; A Munnich
Journal:  Clin Chim Acta       Date:  1994-07       Impact factor: 3.786

6.  Relationship between the rate of citrulline synthesis and bulk changes in the intramitochondrial ATP/ADP ratio in rat-liver mitochondria.

Authors:  R J Wanders; G M Van Woerkom; R F Nooteboom; A J Meijer; J M Tager
Journal:  Eur J Biochem       Date:  1981-01
  6 in total
  11 in total

1.  Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.

Authors:  Qiuying Chen; Kathryne Kirk; Yevgeniya I Shurubor; Dazhi Zhao; Andrea J Arreguin; Ifrah Shahi; Federica Valsecchi; Guido Primiano; Elizabeth L Calder; Valerio Carelli; Travis T Denton; M Flint Beal; Steven S Gross; Giovanni Manfredi; Marilena D'Aurelio
Journal:  Cell Metab       Date:  2018-04-12       Impact factor: 27.287

2.  Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Authors:  Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne-Laporte; Feifei Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphaël Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice-Picard; Christelle M Durand; Christel Depienne; Patrick Calvas; Paula Coutinho; Jean-Marie Saudubray; Guy Rouleau; Alexis Brice; Garth Nicholson; Frédéric Darios; José L Loureiro; Stephan Zuchner; Chris Ottolenghi; Fanny Mochel; Giovanni Stevanin
Journal:  Brain       Date:  2015-05-29       Impact factor: 13.501

3.  Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.

Authors:  Matthias R Baumgartner; Daniel Rabier; Marie-Cécile Nassogne; Jean-Louis Dufier; Jean-Paul Padovani; Pierre Kamoun; David Valle; Jean-Marie Saudubray
Journal:  Eur J Pediatr       Date:  2004-10-28       Impact factor: 3.183

Review 4.  Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.

Authors:  Kei Murayama; Masaru Shimura; Zhimei Liu; Yasushi Okazaki; Akira Ohtake
Journal:  J Hum Genet       Date:  2018-11-21       Impact factor: 3.172

5.  Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Authors:  Shanti Balasubramaniam; B Lewis; D M Mock; H M Said; M Tarailo-Graovac; A Mattman; C D van Karnebeek; D R Thorburn; R J Rodenburg; J Christodoulou
Journal:  JIMD Rep       Date:  2016-07-22

6.  m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

Authors:  Mari Mori; John R Mytinger; Lisa C Martin; Dennis Bartholomew; Scott Hickey
Journal:  JIMD Rep       Date:  2014-09-21

Review 7.  Biomarkers for radiation-induced small bowel epithelial damage: an emerging role for plasma Citrulline.

Authors:  Ludy Lutgens; Philippe Lambin
Journal:  World J Gastroenterol       Date:  2007-06-14       Impact factor: 5.742

8.  Renal mitochondrial cytopathies.

Authors:  Francesco Emma; Giovanni Montini; Leonardo Salviati; Carlo Dionisi-Vici
Journal:  Int J Nephrol       Date:  2011-07-27

9.  Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.

Authors:  Fernando Scaglia; Angela E Scheuerle; Jeffrey A Towbin; Dawna L Armstrong; Lawrence Sweetman; Lee-Jun C Wong
Journal:  BMC Pediatr       Date:  2002-12-30       Impact factor: 2.125

10.  Pharmacometabolomic Assessment of Metformin in Non-diabetic, African Americans.

Authors:  Daniel M Rotroff; Noffisat O Oki; Xiaomin Liang; Sook Wah Yee; Sophie L Stocker; Daniel G Corum; Michele Meisner; Oliver Fiehn; Alison A Motsinger-Reif; Kathleen M Giacomini; Rima Kaddurah-Daouk
Journal:  Front Pharmacol       Date:  2016-06-14       Impact factor: 5.810
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