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Infantile cardiomyopathy

National Institutes of Health

Related topics

Related topics

1 relation
Mucopolysaccharidosis VI

Papers overview

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Highly Cited
2014
Highly Cited
2014
Novel (ovario) leukodystrophy related to AARS2 mutations
Objectives: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype… Expand
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Highly Cited
2007
Highly Cited
2007
Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase
A 10-wk-old infant girl with severe hypertrophy of the septal and atrial walls by cardiac ultrasound, developed progressive… Expand
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Review
2005
Review
2005
New Alström syndrome phenotypes based on the evaluation of 182 cases.
BACKGROUND Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads… Expand
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2005
2005
Characterization of Troponin T Dilated Cardiomyopathy Mutations in the Fetal Troponin Isoform*
The major goal of this study was to elucidate how troponin T (TnT) dilated cardiomyopathy (DCM) mutations in fetal TnT and fetal… Expand
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
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Review
1997
Review
1997
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.
We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of… Expand
Highly Cited
1995
Highly Cited
1995
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart. Defects in enzymes of the beta… Expand
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Highly Cited
1994
Highly Cited
1994
A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy
We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy… Expand
1992
1992
Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI.
An infant with a diagnosis of acute infantile cardiomyopathy was subsequently shown to have mucopolysaccharidosis VI. The… Expand
Highly Cited
1976
Highly Cited
1976
Infantile Cardiomyopathy with Histiocytoid Change in Cardiac Muscle Cells: Report of Six Patients
Clinical and pathologic findings are presented in 14 patients (six newly reported, eight described previously), all children… Expand
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