Literature DB >> 1405471

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

A Ribes1, E Riudor, P Briones, E Christensen, J Campistol, D S Millington.   

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Year:  1992        PMID： 1405471     DOI： 10.1007/bf02435978

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


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  8 in total

1.  Macrocephaly: an important indication for organic acid analysis.

Authors:  G F Hoffmann; F K Trefz; P G Barth; H J Böhles; W Lehnert; E Christensen; J Valk; D Rating; H J Bremer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  A case of glutaric acidemia type I: effect of riboflavin and carnitine.

Authors:  P H Lipkin; C R Roe; S I Goodman; M L Batshaw
Journal:  J Pediatr       Date:  1988-01       Impact factor: 4.406

3.  Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.

Authors:  E Christensen
Journal:  Clin Chim Acta       Date:  1983-03-28       Impact factor: 3.786

4.  Progressive dystonia and dyskinesia in childhood. A review of some recent advances.

Authors:  B Hellström
Journal:  Acta Paediatr Scand       Date:  1982-03

5.  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

6.  Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias.

Authors:  K Tanaka; A West-Dull; D G Hine; T B Lynn; T Lowe
Journal:  Clin Chem       Date:  1980-12       Impact factor: 8.327

7.  Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.

Authors:  J C Haworth; F A Booth; A E Chudley; G W deGroot; L A Dilling; S I Goodman; C R Greenberg; C J Mallory; B M McClarty; S S Seshia
Journal:  J Pediatr       Date:  1991-01       Impact factor: 4.406

Review 8.  Acute profound dystonia in infants with glutaric acidemia.

Authors:  I Bergman; D Finegold; J C Gartner; B J Zitelli; D Claassen; J Scarano; C R Roe; C Stanley; S I Goodman
Journal:  Pediatrics       Date:  1989-02       Impact factor: 7.124
  8 in total
  12 in total

1.  Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management.

Authors:  A A Monavari; E R Naughten
Journal:  Arch Dis Child       Date:  2000-01       Impact factor: 3.791

2.  Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.

Authors:  E Christensen; A Ribes; C Busquets; M Pineda; M Duran; B T Poll-The; C R Greenberg; H Leffers; M Schwartz
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

3.  Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolites.

Authors:  Anna Serra-Pérez; Anna M Planas; Analía Núñez-O'Mara; Edurne Berra; Judit García-Villoria; Antònia Ribes; Tomàs Santalucía
Journal:  J Biol Chem       Date:  2010-04-05       Impact factor: 5.157

4.  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

5.  Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.

Authors:  P Briones; B Garavaglia; A Ribes; M E Yoldi; M Rodés; C Romero; F García-Bragado
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.

Authors:  I Baric; L Wagner; P Feyh; M Liesert; W Buckel; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

7.  A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.

Authors:  P Briones; M A Vilaseca; A Ribes; A Vernet; M Lluch; V Cusi; A Huckriede; E Agsteribbe
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

Review 8.  Diagnosis and management of glutaric aciduria type I.

Authors:  I Barić; J Zschocke; E Christensen; M Duran; S I Goodman; J V Leonard; E Müller; D H Morton; A Superti-Furga; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

9.  Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial beta-oxidation defects.

Authors:  J H Osorio; M Lluch; A Ribes
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 10.  Physiology and pathophysiology of organic acids in cerebrospinal fluid.

Authors:  G F Hoffmann; W Meier-Augenstein; S Stöckler; R Surtees; D Rating; W L Nyhan
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
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