Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy-Reference-Cited by-同舟云学术

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Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

Published:1989-06 Issue:7 Volume:148 Page:656-659
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Smeitink J. A. M.,Sengers R. C. A.,Trijbels J. M. F.,Ruitenbeek W.,Dani�ls O.,Stadhouders A. M.,Kock-Jansen M. J. H.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF00441527.pdf

Reference15 articles.

1. Bookelman H, Trijbels JMF, Sengers RCA, Janssen AJM (1978) Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens. Biochem Med 19:366?373

2. Cruysberg JRM, Sengers RCA, Pinckers A, Kubat K, Van Haelst UGM (1986) Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy. Am J Ophthalmol 102:740?749

3. Fischer JC, Ruitenbeek W, Gabreëls FJM, Janssen AJM, Renier WO, Sengers RCA, Stadhouders AM, Laak ter HJ, Trijbels JMF, Veerkamp JH (1986) A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144:441?444

4. Kollée LAA, Monnens LAH, Trijbels JMF, Veerkamp JH, Janssen AJM, Van Haard-Hustings H (1979) Gluconeogenetic key enzymes in normal and intrauterine growth-retarded newborn rats. Early Hum Dev 3/4:345?352

5. Larter WE, Allen HD, Sahn DJ, Goldberg SJ (1976) The asymmetrically hypertrophied septum: further differentiation of its causes. Circulation 53:19?27

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1. Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report;Cardiovascular Pathology;2021-09

2. The effects of relative gain and age on peripheral blood mononuclear cell mitochondrial enzyme activity in preweaned Holstein and Jersey calves;Journal of Dairy Science;2019-02

3. Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation;Translational Science of Rare Diseases;2017-12-18

4. Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism;Circulation Research;2017-09-15

5. Mutation in the AGK gene in two siblings with unusual Sengers syndrome;Metabolic Brain Disease;2017-09-03

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