Literature DB >> 3181209

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.

B O Eriksson, S Lindstedt, I Nordin.   

Abstract

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Year:  1988        PMID： 3181209     DOI： 10.1007/bf00442488

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


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  6 in total

1.  Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy.

Authors:  M E Tripp; M L Katcher; H A Peters; E F Gilbert; S Arya; R J Hodach; A L Shug
Journal:  N Engl J Med       Date:  1981-08-13       Impact factor: 91.245

2.  The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.

Authors:  G Karpati; S Carpenter; A G Engel; G Watters; J Allen; S Rothman; G Klassen; O A Mamer
Journal:  Neurology       Date:  1975-01       Impact factor: 9.910

3.  Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome.

Authors:  A G Engel; C Angelini
Journal:  Science       Date:  1973-03-02       Impact factor: 47.728

4.  Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

Authors:  P R Chapoy; C Angelini; W J Brown; J E Stiff; A L Shug; S D Cederbaum
Journal:  N Engl J Med       Date:  1980-12-11       Impact factor: 91.245

5.  Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studies.

Authors:  W von Petrykowski; U P Ketelsen; E Schmidt-Sommerfield; D Penn; E Sawicka; E Struck; W Lehnert; K Haap; H M Strassburg
Journal:  Clin Neuropathol       Date:  1985 Mar-Apr       Impact factor: 1.368

6.  Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.

Authors:  L J Waber; D Valle; C Neill; S DiMauro; A Shug
Journal:  J Pediatr       Date:  1982-11       Impact factor: 4.406
  6 in total
  17 in total

Review 1.  Carnitine biosynthesis in mammals.

Authors:  Frédéric M Vaz; Ronald J A Wanders
Journal:  Biochem J       Date:  2002-02-01       Impact factor: 3.857

2.  Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

Authors:  Jan Rasmussen; Olav W Nielsen; Nils Janzen; Morten Duno; Hannes Gislason; Lars Køber; Ulrike Steuerwald; Allan M Lund
Journal:  J Inherit Metab Dis       Date:  2013-05-08       Impact factor: 4.982

3.  Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: successful response to carnitine therapy.

Authors:  P Steenhout; C Elmer; A Clercx; D Blum; D Gnat; S van Erum; F Vertongen; E Vamos
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.

Authors:  Toshiaki Hitomi; Norio Matsuura; Yosuke Shigematsu; Yoshiyuki Okano; Eri Shinozaki; Masahiko Kawai; Hatasu Kobayashi; Kouji H Harada; Akio Koizumi
Journal:  J Genet       Date:  2015-03       Impact factor: 1.166

5.  Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

Authors:  Z Rahbeeni; F M Vaz; K Al-Hussein; M P Bucknall; J Ruiter; R J Wanders; M S Rashed
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

Review 6.  Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.

Authors:  J Osterloh; W Cunningham; A Dixon; D Combest
Journal:  Med Toxicol Adverse Drug Exp       Date:  1989 Jul-Aug

Review 7.  Organelle pathology in metabolic neuromuscular disease: an overview.

Authors:  L E Becker
Journal:  Can J Vet Res       Date:  1990-01       Impact factor: 1.310

8.  Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system.

Authors:  E Christensen; J Vikre-Jørgensen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 9.  Carnitine transport: pathophysiology and metabolism of known molecular defects.

Authors:  I Tein
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

10.  Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).

Authors:  A Green; M A Preece; C de Sousa; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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