Bloodspot Assay Using HPLC–Tandem Mass Spectrometry for Detection of Barth Syndrome
نویسندگان
چکیده
منابع مشابه
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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متن کاملBarth syndrome
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical featu...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2008
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2007.095711