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 کاملPhospholipid abnormalities in children with Barth syndrome.
OBJECTIVES We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype. BACKGROUND Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin (TAZ) gene, whose p...
متن کاملPsychosocial Functioning in Youth with Barth Syndrome.
This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality. Parents completed measures of parental distress, paren...
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: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
سال: 2016
ISSN: 2500-2228,1027-4065
DOI: 10.21508/1027-4065-2016-61-1-64-70