3-Methylglutaconic aciduria type 2

Known as: Syndrome, Barth, 3-Methylglutaconicaciduria Type 2, 3-Methylglutaconicaciduria Type IIs 
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized… (More)
National Institutes of Health

Related topics

Related topics

23 relations
Cardiomyopathy, DilatedClass III malocclusionCongestive heart failureEndocardial Fibroelastosis
(More)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies
Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Central nervous system depressant action of flavonoid glycosides.
The pharmacological effects on the central nervous system (CNS) of a range of available flavonoid glycosides were explored and… (More)
  • table 1
  • table 2
  • figure 1
  • figure 3
  • figure 2
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome.
The Saccharomyces cerevisiae Taz1 protein is the orthologue of human Tafazzin, a protein that when inactive causes Barth Syndrome… (More)
  • figure 2
  • figure 5
  • figure 6
Is this relevant?
2004
2004
Barth syndrome without 3-methylglutaconic aciduria.
UNLABELLED Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc… (More)
Is this relevant?
Review
2003
Review
2003
Organization and evolution of multifunctional Ca(2+)/CaM-dependent protein kinase genes.
The "multi-functional" Ca(2+) and calmodulin-dependent protein kinase, type II (CaMK-II) is an evolutionarily conserved protein… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome.
Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Activation of a Membrane-Bound Transcription Factor by Regulated Ubiquitin/Proteasome-Dependent Processing
Processing of integral membrane proteins in order to liberate active proteins is of exquisite cellular importance. Examples are… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 5
  • figure 7
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome.
Cardiolipin (CL) and phosphatidylglycerol (PG) are the major polyglycerophospholipids observed in mammalian tissues. CL is… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.
Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
Seven boys with an apparently X-linked syndrome of dilated cardiomyopathy, growth retardation, neutropenia, and persistently… (More)
Is this relevant?