Literature DB >> 1499591

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

J A Bakkeren, R C Sengers, W Ruitenbeek, J M Trijbels.   

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Year:  1992        PMID： 1499591     DOI： 10.1007/bf02072242

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


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  5 in total

1.  Early fine motor and adaptive development in high-risk appropriate for gestational age preterm and healthy term children.

Authors:  L Thun-Hohenstein; R H Largo; L Molinari; S Kundu; G Duc
Journal:  Eur J Pediatr       Date:  1991-06       Impact factor: 3.183

2.  Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria.

Authors:  E A Haan; R D Scholem; J J Pitt; J E Wraith; G K Brown
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

3.  3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Authors:  K M Gibson; W L Nyhan; L Sweetman; K Narisawa; W Lehnert; P Divry; B H Robinson; K S Roth; F A Beemer; F J van Sprang
Journal:  Eur J Pediatr       Date:  1988-10       Impact factor: 3.183

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

Review 5.  Significance of prenatal, perinatal and postnatal factors in the development of AGA preterm infants at five to seven years.

Authors:  R H Largo; D Pfister; L Molinari; S Kundu; A Lipp; G Duc
Journal:  Dev Med Child Neurol       Date:  1989-08       Impact factor: 5.449
  5 in total
  5 in total

1.  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

2.  Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.

Authors:  M J Bennett; W G Sherwood; K M Gibson; A B Burlina
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

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

Authors:  G T Besley; M Lendon; D M Broadhead; J Till; L E Heptinstall; B Phillips
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  3-Methylglutaconic aciduria in a patient with Pearson syndrome.

Authors:  U Lichter-Konecki; F K Trefz; A Rötig; A Munnich; A Pfeil; H J Bremer
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

Review 5.  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
  5 in total

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