Literature DB >> 7564252

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria.

G T Besley1, M Lendon, D M Broadhead, J Till, L E Heptinstall, B Phillips.   

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Year:  1995        PMID： 7564252     DOI： 10.1007/BF00711772

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


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  10 in total

1.  Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.

Authors:  E Holme; J Greter; C E Jacobson; N G Larsson; S Lindstedt; K O Nilsson; A Oldfors; M Tulinius
Journal:  Pediatr Res       Date:  1992-12       Impact factor: 3.756

2.  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

3.  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

4.  Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

Authors:  H Ibel; W Endres; H B Hadorn; T Deufel; I Paetzke; M Duran; N G Kennaway; K M Gibson
Journal:  Eur J Pediatr       Date:  1993-08       Impact factor: 3.183

5.  An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

Authors:  M A Birch-Machin; H L Briggs; A A Saborido; L A Bindoff; D M Turnbull
Journal:  Biochem Med Metab Biol       Date:  1994-02

6.  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

7.  X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.

Authors:  R I Kelley; J P Cheatham; B J Clark; M A Nigro; B R Powell; G W Sherwood; J T Sladky; W P Swisher
Journal:  J Pediatr       Date:  1991-11       Impact factor: 4.406

8.  Barth syndrome: clinical observations and genetic linkage studies.

Authors:  J Christodoulou; R R McInnes; V Jay; G Wilson; L E Becker; D C Lehotay; B A Platt; P J Bridge; B H Robinson; J T Clarke
Journal:  Am J Med Genet       Date:  1994-04-15

9.  An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes.

Authors:  P G Barth; H R Scholte; J A Berden; J M Van der Klei-Van Moorsel; I E Luyt-Houwen; E T Van 't Veer-Korthof; J J Van der Harten; M A Sobotka-Plojhar
Journal:  J Neurol Sci       Date:  1983-12       Impact factor: 3.181

10.  3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.

Authors:  O N Elpeleg; H Costeff; A Joseph; Y Shental; R Weitz; K M Gibson
Journal:  Dev Med Child Neurol       Date:  1994-02       Impact factor: 5.449
  10 in total
  8 in total

1.  Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

Authors:  Y Anikster; R Kleta; A Shaag; W A Gahl; O Elpeleg
Journal:  Am J Hum Genet       Date:  2001-10-19       Impact factor: 11.025

Review 2.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

Review 3.  X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Authors:  P G Barth; R J Wanders; P Vreken; E A Janssen; J Lam; F Baas
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

4.  Mitochondrial disease in superoxide dismutase 2 mutant mice.

Authors:  S Melov; P Coskun; M Patel; R Tuinstra; B Cottrell; A S Jun; T H Zastawny; M Dizdaroglu; S I Goodman; T T Huang; H Miziorko; C J Epstein; D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-02       Impact factor: 11.205

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

6.  A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Authors:  Barbara Zapała; Teresa Płatek; Iwona Wybrańska
Journal:  Ann Hum Genet       Date:  2015-03-16       Impact factor: 1.670

7.  3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.

Authors:  Craig D Spergel; Mariya Milko; Christopher Edwards; Jeff P Steinhoff
Journal:  Cardiol Res       Date:  2014-10-06

8.  Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

Authors:  Agnieszka Karkucinska-Wieckowska; Joanna Trubicka; Bozena Werner; Katarzyna Kokoszynska; Magdalena Pajdowska; Maciej Pronicki; Elzbieta Czarnowska; Magdalena Lebiedzinska; Jolanta Sykut-Cegielska; Lidia Ziolkowska; Weronika Jaron; Anna Dobrzanska; Elzbieta Ciara; Mariusz R Wieckowski; Ewa Pronicka
Journal:  J Inherit Metab Dis       Date:  2013-01-30       Impact factor: 4.982
  8 in total

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