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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Primary hyperoxaluria (PH) is an autosomal-recessive disorder of endogenous oxalate synthesis characterized by accumulation of calcium oxalate primarily in the kidney. Deficiencies ofExpand
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Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome.
An uncharacterized multisystemic mitochondrial cytopathy was diagnosed in two infants from consanguineous Palestinian kindred living in a single village. The most significant clinical findings wereExpand
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Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
BACKGROUND AND OBJECTIVES Primary hyperoxaluria types I and II (PHI and PHII) are rare monogenic causes of hyperoxaluria and calcium oxalate urolithiasis. Recently, we described type III, due toExpand
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Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
The spondylo-meta-epiphyseal dysplasia [SMED] short limb-hand type [SMED-SL] is a rare autosomal-recessive disease, first reported by Borochowitz et al. in 1993.(1) Since then, 14 affected patientsExpand
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Primary hyperoxaluria type III—a model for studying perturbations in glyoxylate metabolism
Perturbations in glyoxylate metabolism lead to the accumulation of oxalate and give rise to primary hyperoxalurias, recessive disorders characterized by kidney stone disease. Loss-of-functionExpand
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Human mitochondrial tRNA quality control in health and disease
Mutations in human mitochondrial tRNA genes are associated with a number of multisystemic disorders. These single nucleotide substitutions in various domains of tRNA molecules may affect differentExpand
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Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Background The primary hyperoxalurias are a group of recessive kidney diseases, characterised by extensive accumulation of calcium oxalate that progressively coalesces into kidney stones. OxalateExpand
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Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge
Congenital analbuminemia is a rare autosomal recessive disease in which albumin is not synthesized. Patients with this disorder generally have minimal symptoms despite complete absence of the mostExpand
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Linker-based GnRH-PE chimeric proteins inhibit cancer growth in nude mice
Since the number of cancer-related deaths has not decreased in recent years, major efforts are being made to find new drugs for cancer treatment. In this report we introduce the gonadotropinExpand
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Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?
Dent’s disease is an X-linked proximal tubulopathy. It often manifests in childhood with symptoms of Fanconi syndrome and low-molecular-weight proteinuria. We describe four boys from three unrelatedExpand
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