Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Primary hyperoxalurias: diagnosis and treatment.

Literature DB >> 25519509

Primary hyperoxalurias: diagnosis and treatment.

Abstract

Primary hyperoxalurias (PH) comprise a group of three distinct metabolic diseases caused by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in several aspects of PH research. This paper reviews current knowledge of the genetic and biochemical basis of PH, the specific epidemiology and clinical presentation of each type, and therapeutic approaches in different disease stages. Potential future specific therapies are discussed.

Entities: Chemical Disease

Mesh：

Substances：

Year: 2014 PMID： 25519509 DOI： 10.1007/s00467-014-3030-1

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

96 in total

1. Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.

Authors: D Nolkemper; M J Kemper; M Burdelski; I Vaismann; X Rogiers; C E Broelsch; R Ganschow; D E Müller-Wiefel
Journal: Pediatr Transplant Date: 2000-08

2. Hypothyroidism in primary hyperoxaluria type 1.

Authors: Y Frishberg; S Feinstein; C Rinat; A Drukker
Journal: J Pediatr Date: 2000-02 Impact factor: 4.406

3. Oxalosis; possible inborn error of metabolism with nephrolithiasis and nephrocalcinosis due to calcium oxalate as the predominating features.

Authors: L Y CHOU; W L DONOHUE
Journal: Pediatrics Date: 1952-12 Impact factor: 7.124

4. Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

Authors: Yaacov Frishberg; Choni Rinat; Adel Shalata; Ihab Khatib; Sofia Feinstein; Rachel Becker-Cohen; Irit Weismann; Ronald J A Wanders; Gill Rumsby; Frank Roels; Hanna Mandel
Journal: Am J Nephrol Date: 2005-06-15 Impact factor: 3.754

5. Primary hyperoxaluria--the German experience.

Authors: Bernd Hoppe; Kay Latta; Christian von Schnakenburg; Markus J Kemper
Journal: Am J Nephrol Date: 2005-06-15 Impact factor: 3.754

6. Kidney transplantation in primary oxalosis: data from the EDTA Registry.

Authors: M Broyer; F P Brunner; H Brynger; S R Dykes; J H Ehrich; W Fassbinder; W Geerlings; G Rizzoni; N H Selwood; G Tufveson
Journal: Nephrol Dial Transplant Date: 1990 Impact factor: 5.992

7. L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.

Authors: H E Williams; L H Smith
Journal: N Engl J Med Date: 1968-02-01 Impact factor: 91.245

8. Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.

Authors: S M van der Hoeven; C S van Woerden; J W Groothoff
Journal: Nephrol Dial Transplant Date: 2012-07-27 Impact factor: 5.992

9. Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.

Authors: R W Watts; R Y Calne; R Williams; M A Mansell; N Veall; P Purkiss; K Rolles
Journal: Q J Med Date: 1985-10

10. Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2.

Authors: GholamHossein Naderi; AmirHossein Latif; Firouzeh Tabassomi; Seyed Taher Esfahani
Journal: Pediatr Transplant Date: 2014-03-05

12 in total

1. Metabolite diagnosis of primary hyperoxaluria type 3.

Authors: Lawrence Greed; Frank Willis; Lilian Johnstone; Sharon Teo; Ruth Belostotsky; Yaacov Frishberg; James Pitt
Journal: Pediatr Nephrol Date: 2018-04-28 Impact factor: 3.714

Review 2. Novel therapeutic approaches for the primary hyperoxalurias.

Authors: Ruth Belostotsky; Yaacov Frishberg
Journal: Pediatr Nephrol Date: 2020-11-06 Impact factor: 3.714

3. Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones.

Authors: Carmen Inés Rodriguez Cuellar; Peter Zhan Tao Wang; Michael Freundlich; Guido Filler
Journal: Pediatr Nephrol Date: 2019-01-04 Impact factor: 3.714

4. Long-term complications of systemic oxalosis in children-a retrospective single-center cohort study.

Authors: Efrat Ben-Shalom; Ruth Cytter-Kuint; Choni Rinat; Rachel Becker-Cohen; Shimrit Tzvi-Behr; Jenny Goichberg; Vardit Peles; Yaacov Frishberg
Journal: Pediatr Nephrol Date: 2021-03-02 Impact factor: 3.714

5. Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2.

Authors: Prince Singh; Jason K Viehman; Ramila A Mehta; Andrea G Cogal; Linda Hasadsri; Devin Oglesbee; Julie B Olson; Barbara M Seide; David J Sas; Peter C Harris; John C Lieske; Dawn S Milliner
Journal: Nephrol Dial Transplant Date: 2022-04-25 Impact factor: 7.186

6. Urinary oxalate to creatinine ratios in healthy Turkish schoolchildren.

Authors: Ismail Dursun; İlknur Çelik; Hakan M Poyrazoglu; Kader Köse; Esen Tanrıkulu; Habibe Sahin; Kenan Yılmaz; Ahmet Öztürk; Sibel Yel; Zübeyde Gündüz; Ruhan Düşünsel
Journal: Ren Fail Date: 2016-11-15 Impact factor: 2.606

7. Knockdown of lactate dehydrogenase by adeno-associated virus-delivered CRISPR/Cas9 system alleviates primary hyperoxaluria type 1.

Authors: Rui Zheng; Xiaoliang Fang; Xi Chen; Yunteng Huang; Guofeng Xu; Lei He; Yueyan Li; Xuran Niu; Lei Yang; Liren Wang; Dali Li; Hongquan Geng
Journal: Clin Transl Med Date: 2020-12

8. Hepatic Lactate Dehydrogenase A: An RNA Interference Target for the Treatment of All Known Types of Primary Hyperoxaluria.

Authors: Gema Ariceta; Kelly Barrios; Bob D Brown; Bernd Hoppe; Ralf Rosskamp; Craig B Langman
Journal: Kidney Int Rep Date: 2021-02-03

9. Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.

Authors: Jana Konkoľová; Ján Chandoga; Juraj Kováčik; Marcel Repiský; Veronika Kramarová; Ivana Paučinová; Daniel Böhmer
Journal: BMC Med Genet Date: 2017-05-31 Impact factor: 2.103

10. Calcium oxalate urolithiasis in juvenile dogs.

Authors: Alexander Saver; Jody P Lulich; Samantha Van Buren; Eva Furrow
Journal: Vet Rec Date: 2021-02-10 Impact factor: 2.560