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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
One of the main difficulties in facial age estimation is that the learning algorithms cannot expect sufficient and complete… Expand
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Highly Cited
2006
Highly Cited
2006
Mutations in the human TAZ gene are associated with Barth Syndrome, an often fatal X-linked disorder that presents with… Expand
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Review
2004
Review
2004
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional… Expand
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Highly Cited
2001
Highly Cited
2001
Background — Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
Loss-of-function mutations in the G4.5 gene have been shown to cause Barth syndrome (BTHS), an X-linked disorder characterized by… Expand
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Highly Cited
1996
Highly Cited
1996
Barth Syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short… Expand
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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… Expand
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