Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC-Reference-Cited by-同舟云学术

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Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC

Published:2016-06-21 Issue:8 Volume:58 Page:763-765
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Adrovic Amra¹,Canpolat Nur²,Caliskan Salim²,Sever Lale²,Kıykım Ertugrul³,Agbas Ayse²,Baumgartner Matthias R⁴

Affiliation:

1. Department of Pediatrics; Istanbul University Cerrahpasa Faculty of Medicine; Istanbul Turkey

2. Department of Pediatric Nephrology; Istanbul University Cerrahpasa Faculty of Medicine; Istanbul Turkey

3. Department of Pediatric Metabolic Diseases; Istanbul University Cerrahpasa Faculty of Medicine; Istanbul Turkey

4. Division of Metabolism and Children's Research Center; University Children's Hospital Zurich; Switzerland

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12953/fullpdf

Reference12 articles.

1. An international consensus approach to the management of atypical hemolytic uremic syndrome in children;Loirat;Pediatr. Nephrol.,2016

2. Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society;Sawai;Pediatr. Int.,2014

3. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder;Sharma;Pediatr. Nephrol.,2007

4. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type;Lerner-Ellis;Nat. Genet.,2006

5. Clinical presentation and outcome in 88 patients with the cblC defect;Fischer;J. Inherit. Metab. Dis.,2014

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1. Diagnosis and Treatment for Shiga Toxin-Producing Escherichia coli Associated Hemolytic Uremic Syndrome;Toxins;2022-12-23

2. Uncommon Causes of Acute Kidney Injury;Critical Care Clinics;2022-04

3. Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders;Frontiers in Medicine;2022-03-02

4. Thrombotic Microangiopathy Syndromes—Common Ground and Distinct Frontiers;Advances in Chronic Kidney Disease;2022-03

5. Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review;Children;2021-02-05

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