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Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

✍ Scribed by Ting-Yu Yen; Wuh-Liang Hwu; Yin-Hsiu Chien; Mei-Hwan Wu; Ming-Tai Lin; Lon-Yen Tsao; Wu-Shiun Hsieh; Ni-Chung Lee


Publisher
Springer
Year
2007
Tongue
English
Weight
119 KB
Volume
167
Category
Article
ISSN
0340-6997

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The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multigenerational families have been reported since the initial description of the di