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

Papers overview

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Highly Cited
2014
Highly Cited
2014
Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial roles in cardiac development and disease… (More)
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Highly Cited
2006
Highly Cited
2006
The pharmacological effects on the central nervous system (CNS) of a range of available flavonoid glycosides were explored and… (More)
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Highly Cited
2005
Highly Cited
2005
The Saccharomyces cerevisiae Taz1 protein is the orthologue of human Tafazzin, a protein that when inactive causes Barth Syndrome… (More)
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2004
2004
UNLABELLED Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc… (More)
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Review
2003
Review
2003
The "multi-functional" Ca(2+) and calmodulin-dependent protein kinase, type II (CaMK-II) is an evolutionarily conserved protein… (More)
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Highly Cited
2002
Highly Cited
2002
Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy. Barth syndrome may be due to lipid alterations because… (More)
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Highly Cited
2000
Highly Cited
2000
Processing of integral membrane proteins in order to liberate active proteins is of exquisite cellular importance. Examples are… (More)
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Highly Cited
2000
Highly Cited
2000
Cardiolipin (CL) and phosphatidylglycerol (PG) are the major polyglycerophospholipids observed in mammalian tissues. CL is… (More)
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Highly Cited
1997
Highly Cited
1997
Isolated noncompaction of the left ventricular myocardium (INVM) is characterized by the presence of numerous prominent… (More)
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Highly Cited
1991
Highly Cited
1991
Seven boys with an apparently X-linked syndrome of dilated cardiomyopathy, growth retardation, neutropenia, and persistently… (More)
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