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Article
Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
The propositus presented with hypotonia, respiratory failure, and seizures in the newborn period and was found to have severe hyperlactacidemia and a hypertrophic heart. He carried a de novo pathogenic mutatio...
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Article
Unilateral bloody nipple discharge in a two-month-old male
Bloody nipple discharge is a rare but distressing finding in neonates and infants. We report on a 2-month-old boy with unilateral bloody nipple discharge. Ultrasound examination revealed dilated mammary ducts....
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Article
Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
We report three siblings, two of whom had a neuropathological study, with a new subtype of congenital ponto-cerebellar atrophy (PCH). In addition to the brain stem and cerebellar anomalies common to all types ...
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Article
Transplacental passage of a nonionic contrast agent
We report the presence of iopromide in the bowel and urine of a preterm infant, born 10 days after intravenous administration of the nonionic monomer to his mother. Excessive urinary iodine excretion and borde...
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Article
Aminoterminal Propeptide of Type III Procollagen in Cord Blood and Amniotic Fluid of Appropriate-for-Gestational-Age Infants: A Predictor of Age-Related Fetal Growth Rate
ABSTRACT: Procollagen propeptide serum levels reflect the rate of collagen production. Because the prenatal period is unrivaled in terms of relative amounts of collagen synthesized per unit of time, this life ...
