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Spinal Cord Compression as the First Presentation of Primary Hyperoxaluria in a Patient With Kidney Failure: A Case Report and Literature Review. [PDF]
Kidney MedKliea M +5 more
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Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status. [PDF]
Kidney Dis (Basel)Zhu X, Cheung WW, Zhang A, Ding G.
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Seminars in Nephrology, 2008
The primary hyperoxalurias (PHs) are rare autosomal-recessive inborn errors of metabolism. In the most severe form (type 1), recurrent kidney stones and progressive nephrocalcinosis lead to the loss of kidney function, accompanied by systemic oxalosis, and often requires dialysis and/or transplantation.
Amy E, Bobrowski, Craig B, Langman
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The primary hyperoxalurias (PHs) are rare autosomal-recessive inborn errors of metabolism. In the most severe form (type 1), recurrent kidney stones and progressive nephrocalcinosis lead to the loss of kidney function, accompanied by systemic oxalosis, and often requires dialysis and/or transplantation.
Amy E, Bobrowski, Craig B, Langman
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Primary Hyperoxaluria in Infancy
Australasian Radiology, 1986ABSTRACTPrimary Hyperoxaluria is a rare autosomal recessive disorder causing progressive renal failure and death before adulthood in most cases1. Acute renal failure due to Primary Hyperoxaluria with renal oxalosis is rare in infancy2‐ 3 and we report such a case emphasizing the importance of ultrasonographic examination in the diagnosis of this ...
H N, Srinivas, C, Ramkumar
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Pediatrics, 1960
The clinical and pathologic findings in a case of primary hyperoxaluria and calcium oxalate nephrocalcinosis in a 7-year-old boy are described and discussed in relation to similar reported cases. The diagnosis was suspected because of nephrocalcinosis in the absence of an abnormality of calcium metabolism and proven by the demonstration of increased ...
Thomas H. Shepard +4 more
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The clinical and pathologic findings in a case of primary hyperoxaluria and calcium oxalate nephrocalcinosis in a 7-year-old boy are described and discussed in relation to similar reported cases. The diagnosis was suspected because of nephrocalcinosis in the absence of an abnormality of calcium metabolism and proven by the demonstration of increased ...
Thomas H. Shepard +4 more
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THE RETINOPATHY OF PRIMARY HYPEROXALURIA
Retina, 1985The ophthalmoscopic and fluorescein angiographic findings in a seven-year-old boy with primary hyperoxaluria presented. The retinal findings in this condition have been reported previously in only ten patients. The fluorescein pattern which is considered to be very suggestive was reported previously in only one patient.
E I, Traboulsi +3 more
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An update on primary hyperoxaluria
Nature Reviews Nephrology, 2012The autosomal recessive inherited primary hyperoxalurias types I, II and III are caused by defects in glyoxylate metabolism that lead to the endogenous overproduction of oxalate. Type III primary hyperoxaluria was first described in 2010 and further types are likely to exist. In all forms, urinary excretion of oxalate is strongly elevated (>1 mmol/1.73
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Radiologic findings in primary hyperoxaluria
Skeletal Radiology, 1982Six out of seven patients with primary hyperoxaluria showed various degrees of oxalosis. The radiographic manifestations differ between patients younger than 15 years and those older than 45 years. The mild manifestations in children, only urolithiasis, can be explained by the, as yet, unimpaired renal function. The renal function in the older patients,
MARTIJN, A, THIJN, CJP
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