Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver)

[1]  C. Freehauf,et al.  Role of Electron Microscopy in the Diagnosis of Mitochondrial Cytopathies , 2004, Pediatric and Developmental Pathology.

[2]  S. Dimauro,et al.  Mitochondrial DNA depletion and dGK gene mutations , 2002, Annals of neurology.

[3]  P. Harrigan,et al.  Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients. , 2002, The New England journal of medicine.

[4]  D. Pongratz,et al.  Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. , 2002, Human pathology.

[5]  H. Mandel,et al.  Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy , 2001, Nature Genetics.

[6]  H. Mandel,et al.  The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA , 2001, Nature Genetics.

[7]  S. Dimauro,et al.  Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome? , 2001, Hepatology.

[8]  A. Suomalainen,et al.  Diseases caused by nuclear genes affecting mtDNA stability. , 2001, American journal of medical genetics.

[9]  J. Cooper,et al.  Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures. , 1999, The American journal of pathology.

[10]  J. Cooper,et al.  Molecular mechanisms in mitochondrial DNA depletion syndrome. , 1997, Human molecular genetics.

[11]  V. Dubowitz,et al.  Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. , 1994, Human molecular genetics.

[12]  E. Bertini,et al.  Fatal infantile liver failure associated with mitochondrial DNA depletion. , 1992, The Journal of pediatrics.

[13]  S. Dimauro,et al.  Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA , 1992, Neurology.

[14]  S. Dimauro,et al.  mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. , 1991, American journal of human genetics.

[15]  R. Bouvier,et al.  Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. , 1999, Journal of hepatology.

[16]  A. Lau,et al.  Comparison of restriction fragment length polymorphisms of proto-oncogenes in native Hawaiians and other ethnic groups in Hawaii. , 1992, Human heredity.