Literature DB >> 1168700

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise.

R C Sengers, J M Trijbels, J L Willems, O Daniels, A M Stadhouders.   

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Year:  1975        PMID： 1168700     DOI： 10.1016/s0022-3476(75)80217-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  38 in total

Review 1.  Human mitochondrial complex I in health and disease.

Authors:  J Smeitink; L van den Heuvel
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

Review 2.  Primary lipid cardiomyopathy.

Authors:  A Zimmermann; P Wyss; F Stocker
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1990

Review 3.  Mitochondrial myopathy: a genetic study of 71 cases.

Authors:  A E Harding; R K Petty; J A Morgan-Hughes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

Review 4.  Secondary mitochondrial pathology.

Authors:  R C Sengers; A M Stadhouders
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

5.  Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Authors:  Gabriella Di Rosa; Federica Deodato; Ference J Loupatty; Cristiano Rizzo; Rosalba Carrozzo; Filippo M Santorelli; Sara Boenzi; Adele D'Amico; Giulia Tozzi; Enrico Bertini; Andrea Maiorana; Ronald J A Wanders; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2006-05-30       Impact factor: 4.982

6.  Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Authors:  Samantha A Schrier; Lee-Jun Wong; Emily Place; Jack Q Ji; Eric A Pierce; Jeffrey Golden; Mariarita Santi; William Anninger; Marni J Falk
Journal:  Discov Med       Date:  2012-02       Impact factor: 2.970

Review 7.  Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Authors:  F Lamari; F Mochel; F Sedel; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2012-07-20       Impact factor: 4.982

8.  Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.

Authors:  R C Sengers; A M Stadhouders; E van Lakwijk-Vondrovicova; K Kubat; W Ruitenbeek
Journal:  Br Heart J       Date:  1985-11

9.  Reye's syndrome; diagnosis by muscle biopsy?

Authors:  Y Shapira; R Deckelbaum; M Statter; A Tennenbaum; M Aker; R Yarom
Journal:  Arch Dis Child       Date:  1981-04       Impact factor: 3.791

10.  Percutaneous needle biopsy of skeletal muscle in childhood.

Authors:  R C Sengers; A M Stadhouders; S L Notermans
Journal:  Eur J Pediatr       Date:  1980-10       Impact factor: 3.183
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