Is Barth gereformeerd?
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...
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...
متن کاملBarth syndrome is associated with a cognitive phenotype.
OBJECTIVE Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype. METHODS The present study was designed to explore whether ad...
متن کاملDagmar Barth - Weingarten
This paper presents the concept of the "participant perspective" as an approach to the study of spoken language. It discusses three aspects of this concept and shows that they can offer helpful tools in spoken language research. Employing the participant perspective provides us with an alternative to many of the approaches currently in use in the study of spoken language in that it favours smal...
متن کاملSeven functional classes of Barth syndrome mutation.
Patients with Barth syndrome (BTHS), a rare X-linked disease, suffer from skeletal and cardiomyopathy and bouts of cyclic neutropenia. The causative gene encodes tafazzin, a transacylase, which is the major determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, CL. In addition to numerous frame shift and splice-site mutations, 36 missense mutations have been...
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ژورنال
عنوان ژورنال: Koers - Bulletin for Christian Scholarship
سال: 1950
ISSN: 2304-8557,0023-270X
DOI: 10.4102/koers.v18i2.1703