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Revue medicale de Bruxelles, 1996
Primary hyperoxaluria is a rare hereditary disease. Two types have been identified. Type 1 is due to the deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase/serine: pyruvate amino-transferase whereas, in type 2, the deficiency concerns the glyoxylate reductase/D-glycerate dehydrogenase, a cytosolic enzyme present in ...
C, Toussaint, L, De Pauw
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Primary hyperoxaluria is a rare hereditary disease. Two types have been identified. Type 1 is due to the deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase/serine: pyruvate amino-transferase whereas, in type 2, the deficiency concerns the glyoxylate reductase/D-glycerate dehydrogenase, a cytosolic enzyme present in ...
C, Toussaint, L, De Pauw
openaire +2 more sources
Journal of Endourology and Minimally Invasive Surgery
Primary hyperoxaluria (PH) can lead to the formation of kidney stones. When oxalate binds to calcium in the urine, calcium oxalate is produced, which is the most common component of kidney stones. Primary hyperoxaluria is a group of rare genetic disorders causing loss of specific enzyme activity.
Metodi Tahchiev, Krasimir Neykov
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Primary hyperoxaluria (PH) can lead to the formation of kidney stones. When oxalate binds to calcium in the urine, calcium oxalate is produced, which is the most common component of kidney stones. Primary hyperoxaluria is a group of rare genetic disorders causing loss of specific enzyme activity.
Metodi Tahchiev, Krasimir Neykov
openaire +1 more source
Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2007
A 5-month-old female infant who had chronic diarrhea and acute renal failure was referred to Chulalongkorn Hospital for further investigation and management. Laboratory investigation revealed elevated blood urea nitrogen and creatinine level, hypocalcemia, hyperphosphatemia, and hyponatremia.
Patou, Tantbirojn +2 more
openaire +1 more source
A 5-month-old female infant who had chronic diarrhea and acute renal failure was referred to Chulalongkorn Hospital for further investigation and management. Laboratory investigation revealed elevated blood urea nitrogen and creatinine level, hypocalcemia, hyperphosphatemia, and hyponatremia.
Patou, Tantbirojn +2 more
openaire +1 more source

