Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria-Reference-Cited by-同舟云学术

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Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

Published:2012-03-25 Issue:8 Volume:27 Page:1401-1405
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Menni Francesca,Testa Sara,Guez Sophie,Chiarelli Gabriella,Alberti Luisella,Esposito Susanna

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-012-2152-6.pdf

Reference15 articles.

1. Martinelli D, Deodato F, Dionisi-Vici C (2011) Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis 34:127–135

2. Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A 143A:2430–2434

3. Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C (2011) Cobalamin C defect presenting as severe neonatal hyperammonemia. Eur J Pediatr 170:887–890

4. Van Hove JL, Van Damme-Lombaerts R, Grünewald S, Peters H, Van Damme B, Fryns JP, Arnout J, Wevers R, Baumgartner ER, Fowler B (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. Am J Med Genet 111:195–201

5. Kind T, Levy J, Lee M, Kaicker S, Nicholson JF, Kane SA (2002) Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period. J Pediatr Hematol Oncol 24:327–329

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1. Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?;Molecular Genetics and Metabolism;2023-11

2. Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency;Frontiers in Pediatrics;2023-01-10

3. Atypical Hemolytic Uremic Syndrome;Pediatric Kidney Disease;2023

4. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis;Cell Reports Medicine;2022-07

5. Thrombotic Thrombocytopenic Purpura, Atypical Hemolytic Uremic Syndrome, and Spectrum of Thrombotic Microangiopathy;Pediatric Nephrology;2022

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