Literature DB >> 1915526

Organic aciduria in Pearson syndrome.

C Jakobs, P Danse, A J Veerman.   

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Year:  1991        PMID： 1915526     DOI： 10.1007/bf02072635

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Authors:  V Cormier; A Rötig; A R Quartino; G L Forni; R Cerone; M Maier; J M Saudubray; A Munnich
Journal:  J Pediatr       Date:  1990-10       Impact factor: 4.406

2.  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

3.  Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome.

Authors:  A Rotig; M Colonna; J P Bonnefont; S Blanche; A Fischer; J M Saudubray; A Munnich
Journal:  Lancet       Date:  1989-04-22       Impact factor: 79.321

4.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.

Authors:  H A Pearson; J S Lobel; S A Kocoshis; J L Naiman; J Windmiller; A T Lammi; R Hoffman; J C Marsh
Journal:  J Pediatr       Date:  1979-12       Impact factor: 4.406
  4 in total
  10 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.  Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Authors:  Gabriella Di Rosa; Federica Deodato; Ference J Loupatty; Cristiano Rizzo; Rosalba Carrozzo; Filippo M Santorelli; Sara Boenzi; Adele D'Amico; Giulia Tozzi; Enrico Bertini; Andrea Maiorana; Ronald J A Wanders; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2006-05-30       Impact factor: 4.982

3.  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
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  Pearson's marrow/pancreas syndrome: a histological and genetic study.

Authors:  Y Morikawa; N Matsuura; K Kakudo; R Higuchi; M Koike; Y Kobayashi
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

5.  Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.

Authors:  A Superti-Furga; E Schoenle; P Tuchschmid; R Caduff; V Sabato; D DeMattia; R Gitzelmann; B Steinmann
Journal:  Eur J Pediatr       Date:  1993-01       Impact factor: 3.183

6.  3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

Authors:  Saskia B Wortmann; Leo A J Kluijtmans; Richard J Rodenburg; Jörn Oliver Sass; Jessica Nouws; Edwin P van Kaauwen; Tjitske Kleefstra; Lisbeth Tranebjaerg; Maaike C de Vries; Pirjo Isohanni; Katharina Walter; Fowzan S Alkuraya; Izelle Smuts; Carolus J Reinecke; Francois H van der Westhuizen; David Thorburn; Jan A M Smeitink; Eva Morava; Ron A Wevers
Journal:  J Inherit Metab Dis       Date:  2013-01-25       Impact factor: 4.982

7.  Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.

Authors:  U Wendel; W Ruitenbeek; H A Bentlage; R C Sengers; J M Trijbels
Journal:  Eur J Pediatr       Date:  1995-11       Impact factor: 3.183

Review 8.  Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Authors:  Takeshi Sato; Koji Muroya; Junko Hanakawa; Reiko Iwano; Yumi Asakura; Yukichi Tanaka; Kei Murayama; Akira Ohtake; Tomonobu Hasegawa; Masanori Adachi
Journal:  Eur J Pediatr       Date:  2015-06-16       Impact factor: 3.183

9.  mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome.

Authors:  Mohammad Taghi Arzanian; Aziz Eghbali; Parvaneh Karimzade; Mitra Ahmadi; Massoud Houshmand; Nima Rezaei
Journal:  Iran J Pediatr       Date:  2010-03       Impact factor: 0.364

Review 10.  The 3-methylglutaconic acidurias: what's new?

Authors:  Saskia B Wortmann; Leo A Kluijtmans; Udo F H Engelke; Ron A Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982
  10 in total

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