Primary hyperoxaluria
Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1
... Primary hyperoxaluria type 1 (PH1; MIM# 259900) is an autosomal recessive disorder of glyoxylate metabolism, leading to the overproduction of endogenous oxalate; patients present with urolithiasis and/or ...
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Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria
... Primary hyperoxaluria, is a rare metabolic disease that seem to provide a high morbidity and severe infantile PH1. I244T and 33_34insC presented 28.2% of identified mutations causing disease in our cohort. ...
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Case Report Primary hyperoxaluria type 1: a case report in a 7-month-old Chinese infant under biopsy and light microscope diagnosis
... Abstract: Primary hyperoxaluria type one (PH1) is a rare inborn autosomal recessive monogenic metabolic disorder due to hepatic alanine-glyoxylate-aminotransferase deficiency which results in excessive ...
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Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation
... Primary hyperoxaluria type 1 (PH1) is the common and severe form of hyperoxaluria. This rare autosomal reces- sive inborn disease is a result of glyoxylate metabolism defect, caused by an absence, ...
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Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations
... Primary hyperoxaluria is a rare metabolic disease charac- terized by allelic and clinical heterogeneity. In this study, we provided relevance regarding the compound heterozy- gous mutations in non ...
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Molecular analysis of the AGXT gene and linkage studies in primary hyperoxaluria type 1
... Summary: Primary hyperoxaluria type 1 (PHI) is an autosomal recessive disorder of glyoxylate metabolism caused by deficiency of the hepatic peroxisomal enzyme alanineiglyoxylate aminotransferase ...
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PRIMARY HYPEROXALURIA
... The patient received glycine (10 gm/day for 5 days) and showed no increase in un- nary excretion of oxalate although he did exhibit stones in the urinary bladder for the first time 4 day[r] ...
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PRIMARY HYPEROXALURIA
... Gramlo has documented the occurrence of urinary cal- culi composed of oxalate as a dominant trait, but the urinary excretion of oxalate was not measured and the clinical c[r] ...
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Efficacy of Hydroxy-L-proline (HYP) analogs in the treatment of primary hyperoxaluria in Drosophila Melanogaster
... Background: Substrate reduction therapy with analogs reduces the accumulation of substrates by inhibiting the metabolic pathways involved in their biosynthesis, providing new treatment options for patients with ...
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Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review
... Diagnosed Medical history Clinical presentations Biopsy of renal graft Genetic testing/other proofs Treatment Outcomes Malakoutian et al, 2011 [ 12 ] 22/F, Iranian. PH1 had the experienc[r] ...
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PRIMARY HYPEROXALURIA
... of nephrocalcinosis in the absence of any demonstrable abnormality of calcium metabo- lisni and confirmed by the demonstration of in- creased excretion of oxalate in the urine.. (Accepte[r] ...
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Successful pre-emptive kidney transplantation in a cystinuria patient with nephrolithiasis-related end-stage renal disease
... Patients with rare hereditary forms of kidney stone dis- eases, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency, experience re[r] ...
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Vitamin C induced hyperoxaluria causing reversible tubulointerstitial nephritis and chronic renal failure: a case report
... Clinically, hyperoxaluria presents in one of several ways, depending on the severity, chronicity, etiologies and co- ...profound hyperoxaluria. Second, at the other end, intermittent hyperoxaluria ...
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Personal Digital Assistants (PDAs) in Mathematics Teacher Education
... handheld computers evolved from personal organizers, but today’s handhelds can be effective tools that help students organize facts and concepts, develop written do[r] ...
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Overloading on Slides: Cognitive Load Theory and Microsoft’s Slide Program PowerPoint
... in his booklet The Cognitive Style of PowerPoint visual design expert Edward tufte condemned the use of powerpoint, stating that the program itself was making people “stupid” [r] ...
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Implementation of a University Standard for Personal Response Systems
... The large classroom building opened in the spring 2007 semester, so we reran the same survey hoping to get feedback from a class of approximately 130 students using the clickers in thi[r] ...
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Technology and Student Learning: Towards a Learner-Centered Teaching Model
... the primary concern in technology use is for teachers to go beyond technical competence to provide students with pedagogical uses and criti- cally analyze their effective use in various contexts (Bush, ...
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Managing the Growing Complexity of Administration of Academic Technology in Higher Education
... ATSS directors belong to the group of technology leaders since they seek to adopt new technological innovations, manage change, develop policies and procedures tha[r] ...
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Classroom Technology in Business Schools: A Survey of Installations and Attitudes Toward Teaching and Learning
... The results of the survey provided four major findings: (a) business schools are using high levels of multi- media technology in their classrooms; (b) levels of technol- ogy are [r] ...
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Learning in Technology: Reconceptualizing Immersive Environments
... Given three classical ways in which teachers and researchers have examined educational technology (i.e., learning about , from , and with technology), there is a fourth perspective t[r] ...
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