Literature DB >> 8482296

3-Methylglutaconic aciduria in a patient with Pearson syndrome.

U Lichter-Konecki, F K Trefz, A Rötig, A Munnich, A Pfeil, H J Bremer.   

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Year:  1993        PMID： 8482296     DOI： 10.1007/bf01956761

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


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  4 in total

1.  3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Authors:  D Chitayat; J Chemke; K M Gibson; O A Mamer; J B Kronick; J J McGill; B Rosenblatt; L Sweetman; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism.

Authors:  J A Bakkeren; R C Sengers; W Ruitenbeek; J M Trijbels
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

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.  Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

Authors:  K M Gibson; W G Sherwood; G F Hoffman; D A Stumpf; I Dianzani; R B Schutgens; P G Barth; U Weismann; C Bachmann; P Schrynemackers-Pitance
Journal:  J Pediatr       Date:  1991-06       Impact factor: 4.406
  4 in total
  5 in total

1.  Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.

Authors:  Yanqin Ying; Yan Liang; Xiaoping Luo; Ming Wei
Journal:  Front Genet       Date:  2022-05-23       Impact factor: 4.772

2.  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

3.  Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).

Authors:  Piero Farruggia; Andrea Di Cataldo; Rita M Pinto; Elena Palmisani; Alessandra Macaluso; Laura Lo Valvo; Maria E Cantarini; Assunta Tornesello; Paola Corti; Francesca Fioredda; Stefania Varotto; Baldo Martire; Isabella Moroni; Giuseppe Puccio; Giovanna Russo; Carlo Dufour; Marta Pillon
Journal:  JIMD Rep       Date:  2015-08-04

Review 4.  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

Review 5.  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
  5 in total

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