… that the biosynthesis rate of phosphatidylglycerol (PG), a precursor of cardiolipin and … ,
being the characteristic acyl side chain in mammalian PG and CL, is significantly reduced, …

X‐linked cardioskeletal myopathy, neutropenia and abnormal mitochondria (MIM 302060) (synonyms:
Barth syndrome, 3‐methylglutaconic aciduria type II, endocardial fibroelastosis …

… in PG and CL metabolism in Barth … into PG and CL is severely deficient in the patients we
studied, this finding provides the first biochemical test on cultured skin fibroblasts in which Barth …

… Barth PG, Uylings HBM, Stam FC. Interhemispheral neuroepithelial (glio-ependymal) cysts,
… Moerman Ph, Barth PG. Olivo-ponto-cerebellar atrophy with muscular atrophy, and joint …

Barth syndrome (BTHS) is an X-linked recessive disorder that is biochemically characterized
by low cellular levels of the mitochondrial phospholipid cardiolipin (CL). Previously, we …

An X-linked recessive disease is reported in a large pedigree. The disease is characterised
by a triad of dilated cardiomyopathy, neutropenia and skeletal myopathy. The untreated …

Results. Clinical profiles. The clinical data are summarized in table 1. A full description of two
representative patients is presented below. Patient 1 is a female, born in March 1987, first …

Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition
characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. …

An identical syndrome of cerebral leukoencephalopathy and megalencephaly with infantile
onset was discovered in 8 children, including 2 siblings. Neurological findings were initially …

The object of this study was to investigate whether the levels of cardiolipin in cultured skin
fibroblasts of patients with Barth syndrome (BTHS) can be restored by addition of linoleic acid …