Literature DB >> 7564257

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

P Briones1, B Garavaglia, A Ribes, M E Yoldi, M Rodés, C Romero, F García-Bragado.   

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Year:  1995        PMID： 7564257     DOI： 10.1007/BF00711777

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


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  9 in total

Review 1.  Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.

Authors:  I Tein; D C De Vivo; F Bierman; P Pulver; L J De Meirleir; L Cvitanovic-Sojat; R A Pagon; E Bertini; C Dionisi-Vici; S Servidei
Journal:  Pediatr Res       Date:  1990-09       Impact factor: 3.756

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

Authors:  A Ribes; E Riudor; P Briones; E Christensen; J Campistol; D S Millington
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts.

Authors:  W R Treem; C A Stanley; D N Finegold; D E Hale; P M Coates
Journal:  N Engl J Med       Date:  1988-11-17       Impact factor: 91.245

4.  Transport of carnitine into cells in hereditary carnitine deficiency.

Authors:  B O Eriksson; B Gustafson; S Lindstedt; I Nordin
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.

Authors:  B Garavaglia; G Uziel; F Dworzak; F Carrara; S DiDonato
Journal:  Neurology       Date:  1991-10       Impact factor: 9.910

6.  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

Review 7.  Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

Authors:  C A Stanley; S DeLeeuw; P M Coates; C Vianey-Liaud; P Divry; J P Bonnefont; J M Saudubray; M Haymond; F K Trefz; G N Breningstall
Journal:  Ann Neurol       Date:  1991-11       Impact factor: 10.422

8.  Renal handling of carnitine in secondary carnitine deficiency disorders.

Authors:  C A Stanley; G T Berry; M J Bennett; S M Willi; W R Treem; D E Hale
Journal:  Pediatr Res       Date:  1993-07       Impact factor: 3.756

9.  Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.

Authors:  S Di Donato; B Garavaglia; P Strisciuglio; C Borrone; G Andria
Journal:  Neurology       Date:  1988-07       Impact factor: 9.910
  9 in total
  2 in total

1.  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 2.  Disorders of mitochondrial long-chain fatty acid oxidation.

Authors:  R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  2 in total

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