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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
NEURONAL ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children which have a global incidence of 1 in 12,500 (ref. 1). These severe brain diseases areExpand
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Supplementary creatine as a treatment for gyrate atrophy of the choroid and retina.
Gyrate atrophy of the choroid and retina is a disease characterized by progressive constriction of visual fields, a 10-fold to 20-fold elevation in plasma ornithine, and depressed activity ofExpand
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Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
BACKGROUND Congenital nephrotic syndrome (NPHS1) is a rare disease inherited as an autosomally recessive trait. The NPHS1 gene mutated in NPHS1 children has recently been identified. The gene codesExpand
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Muscle-eye-brain disease (MEB)
Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The patients presentedExpand
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Neuronal ceroid-lipofuscinoses in childhood.
  • J. Rapola
  • Medicine
  • Perspectives in pediatric pathology
  • 1993
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Long-term outcome of primary nephrotic syndrome.
One hundred and fourteen children with primary nephrotic syndrome were followed up prospectively for periods of between 5 and 14 years. Urine samples from 94 of them became protein-free during theExpand
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Henoch-Schönlein nephritis: long-term prognosis of unselected patients.
Progressive glomerulonephritis is the most serious feature of Henoch-Schönlein syndrome. In a series of 141 children with Henoch-Schönlein purpura 39 (28%) had abnormal urinary sediment for aExpand
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Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome
ABSTRACT: We describe a four-generation family with a maternally inherited mitochondrial disorder. The symptoms were restricted to the CNS and muscle, the most common features being subacuteExpand
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Cellular expression of xanthine oxidoreductase protein in normal human tissues.
Xanthine oxidoreductase is an important cytoplasmic source of reactive oxygen species, and has been implicated in the pathogenesis of ischemia-reperfusion damage. Because the cellular localization ofExpand
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Chronic osteomyelitislike disease with negative bacterial cultures.
During a seven-year period we observed 14 children who had chronic osteomyelitislike disease. The bacterial cultures from the bone lesions were negative. In eight patients the findings wereExpand
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