Literature DB >> 3337009

Congenital cardiomyopathy and cataracts with lactic acidosis.

J Valsson1, T Laxdal, A Jonsson, K K Jansson, H Helgason.   

Abstract

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Year:  1988        PMID： 3337009     DOI： 10.1016/0002-9149(88)91331-8

Source DB:  PubMed          Journal:  Am J Cardiol        ISSN： 0002-9149            Impact factor:   2.778


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  8 in total

1.  Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency.

Authors:  X Luo; S Pitkänen; S Kassovska-Bratinova; B H Robinson; D C Lehotay
Journal:  J Clin Invest       Date:  1997-06-15       Impact factor: 14.808

2.  NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings.

Authors:  S Pitkänen; A Feigenbaum; R Laframboise; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Cardiomyopathy in infancy: observations in an epidemiologic study.

Authors:  C Ferencz; C A Neill
Journal:  Pediatr Cardiol       Date:  1992-04       Impact factor: 1.655

Review 4.  A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis.

Authors:  G J van Ekeren; A M Stadhouders; J A Smeitink; R C Sengers
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

5.  Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts.

Authors:  Mehnaz Atiq; S Iqbal; S Ibrahim
Journal:  Indian J Pediatr       Date:  2004-05       Impact factor: 1.967

6.  Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Authors:  Eva Morava; Rob Sengers; Henk Ter Laak; Lambert Van Den Heuvel; Antoon Janssen; Frans Trijbels; Hans Cruysberg; Carolien Boelen; Jan Smeitink
Journal:  Eur J Pediatr       Date:  2004-05-27       Impact factor: 3.183

7.  Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Authors:  Johannes A Mayr; Tobias B Haack; Elisabeth Graf; Franz A Zimmermann; Thomas Wieland; Birgit Haberberger; Andrea Superti-Furga; Janbernd Kirschner; Beat Steinmann; Matthias R Baumgartner; Isabella Moroni; Eleonora Lamantea; Massimo Zeviani; Richard J Rodenburg; Jan Smeitink; Tim M Strom; Thomas Meitinger; Wolfgang Sperl; Holger Prokisch
Journal:  Am J Hum Genet       Date:  2012-01-26       Impact factor: 11.025

8.  The First Cataract Surgeons in the British Isles.

Authors:  Christopher T Leffler; Stephen G Schwartz; Eric Peterson; Natario L Couser; Abdul-Rahman Salman
Journal:  Am J Ophthalmol       Date:  2021-03-17       Impact factor: 5.488
  8 in total

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