Else Margarete Barth (1928-2015)

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Barth syndrome

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the m...

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Barth syndrome

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ژورنال

عنوان ژورنال: Informal Logic

سال: 2015

ISSN: 0824-2577,0824-2577

DOI: 10.22329/il.v35i1.4327