Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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

Related topics

Related topics

23 relations
Cardiomyopathy, DilatedClass III malocclusionCongestive heart failureEndocardial Fibroelastosis
Expand

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Facial Age Estimation by Learning from Label Distributions
One of the main difficulties in facial age estimation is that the learning algorithms cannot expect sufficient and complete… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
Mutations in the human TAZ gene are associated with Barth Syndrome, an often fatal X-linked disorder that presents with… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2004
Review
2004
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional… Expand
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome
Background — Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including… Expand
  • table 1
  • table 2
  • figure 1
  • figure 2
  • table 3
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… Expand
  • 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… Expand
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… Expand
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
Loss-of-function mutations in the G4.5 gene have been shown to cause Barth syndrome (BTHS), an X-linked disorder characterized by… Expand
Is this relevant?
Highly Cited
1996
Highly Cited
1996
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Barth Syndrome is a severe inherited disorder, often fatal in childhood, characterized by cardiac and skeletal myopathy, short… Expand
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… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE