Vanishing lung syndrome in one family: Five cases with a 20-year follow-up
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چکیده
منابع مشابه
NARP Syndrome: A 20-Year Follow-Up
One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, ...
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In 1965 Bodian et al. reported observations on 46 children with recurrent haematuria investigated by renal biopsy. The cases were classified according to the type of onset of haematuria into one of three groups: (1) no definite illness (36 cases); (2) attack of anaphylactoid purpura (7 cases); and (3) acute glomerulonephritis (3 cases). The biopsy specimens were examined by orthodox histologica...
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Background & Aims: Hydronephrosis is a common problem in prenatal and newborn infants diagnosed by ultrasonography. Bladder to ureter reflux, the upper or lower urinary tract obstruction, and neurogenic bladder are the most common causes of hydronephrosis in newborns and infants. Methods: In this study, 100 neonates and infants with hydronephrosis were observed clinically and laboratorically fo...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2014
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2014.2673