Literature DB >> 7609446

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

A Ribes1, E Riudor, R Valcárel, A Salvá, F Castelló, S Murillo, C Dominguez, A Rötig, C Jakobs.   

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Year:  1993        PMID： 7609446     DOI： 10.1007/BF00711675

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


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  5 in total

1.  Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.

Authors:  K E Baerlocher; A Feldges; M Weissert; H J Simonsz; A Rötig
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

Authors:  A Ribes; E Riudor; P Briones; E Christensen; J Campistol; D S Millington
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Authors:  A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

4.  Organic aciduria in Pearson syndrome.

Authors:  C Jakobs; P Danse; A J Veerman
Journal:  Eur J Pediatr       Date:  1991-07       Impact factor: 3.183

5.  Citrate therapy in argininosuccinate lyase deficiency.

Authors:  A K Iafolla; D S Gale; C R Roe
Journal:  J Pediatr       Date:  1990-07       Impact factor: 4.406
  5 in total
  12 in total

1.  Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.

Authors:  C Bruno; C Minetti; Y Tang; P J Magalhães; F M Santorelli; S Shanske; M Bado; G Cordone; R Gatti; S DiMauro
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

2.  Metabolism of citrulline in man.

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

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

Authors:  D Rabier; C Diry; A Rotig; P Rustin; B Heron; J Bardet; P Parvy; G Ponsot; C Marsac; J M Saudubray; A Munnich; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

4.  Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.

Authors:  Michael J O'Grady; Ahmad A Monavari; Melanie Cotter; Nuala P Murphy
Journal:  BMJ Case Rep       Date:  2015-02-26

5.  Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Authors:  Samantha A Schrier; Lee-Jun Wong; Emily Place; Jack Q Ji; Eric A Pierce; Jeffrey Golden; Mariarita Santi; William Anninger; Marni J Falk
Journal:  Discov Med       Date:  2012-02       Impact factor: 2.970

Review 6.  Mitochondrial disease and endocrine dysfunction.

Authors:  Jasmine Chow; Joyeeta Rahman; John C Achermann; Mehul T Dattani; Shamima Rahman
Journal:  Nat Rev Endocrinol       Date:  2016-10-07       Impact factor: 43.330

Review 7.  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

8.  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

9.  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

10.  Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

Authors:  J P Harpey; D Heron; M Prudent; C Charpentier; P Rustin; G Ponsot; V Cormier-Daire
Journal:  J Inherit Metab Dis       Date:  1998-10       Impact factor: 4.982
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