Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review
暂无分享,去创建一个
D. Zafeiriou | V. Karava | M. Economou | H. Michelakakis | E. Vargìami | S. Gerou | N. Printza | J. Dotis | A. Kondou | Georgia Sotiriou
[1] B. Souweine,et al. Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult , 2020, BMC Nephrology.
[2] T. Coşkun,et al. Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency , 2019, Nephron.
[3] E. Şevketoğlu,et al. Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab , 2018, Pediatric Nephrology.
[4] J. Balcells,et al. Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension. , 2017, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.
[5] M. Baumgartner,et al. Cobalamin C defect‐hemolytic uremic syndrome caused by new mutation in MMACHC , 2016, Pediatrics international : official journal of the Japan Pediatric Society.
[6] A. Diepstra,et al. Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity , 2016, Pediatric Nephrology.
[7] R. Coppo,et al. An international consensus approach to the management of atypical hemolytic uremic syndrome in children , 2015, Pediatric Nephrology.
[8] M. Baumgartner,et al. Clinical presentation and outcome in a series of 88 patients with the cblC defect , 2014, Journal of Inherited Metabolic Disease.
[9] L. Doucet,et al. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. , 2014, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[10] C. Venditti,et al. Disorders of Intracellular Cobalamin Metabolism , 2013 .
[11] S. Testa,et al. Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria , 2012, Pediatric Nephrology.
[12] C. Venditti,et al. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes , 2012, Journal of Inherited Metabolic Disease.
[13] R. Chandler,et al. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management , 2012, Journal of Inherited Metabolic Disease.
[14] G. Salomons,et al. CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency , 2010, Pediatric Nephrology.
[15] M. Baumgartner,et al. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations , 2009, Human mutation.
[16] C. Greenberg,et al. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder , 2007, Pediatric Nephrology.
[17] C. Morel,et al. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. , 2006, Molecular genetics and metabolism.
[18] E. Shoubridge,et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type , 2006, Nature Genetics.
[19] R. Favier,et al. Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. , 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.
[20] G. Werstuck,et al. Role of hyperhomocysteinemia in endothelial dysfunction and atherothrombotic disease , 2004, Cell Death and Differentiation.
[21] P. Francis,et al. An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury , 2004, European Journal of Pediatrics.
[22] M. Seashore,et al. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC) , 1997, Journal of Inherited Metabolic Disease.
[23] M. Geraghty,et al. Tubulointerstitial nephritis in methylmalonic acidemia , 1993, Pediatric Nephrology.
[24] T. Kind,et al. Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period. , 2002, Journal of pediatric hematology/oncology.
[25] G. Barbano,et al. SYNDROME HEMOLYTIQUE ET UREMIQUE NEONATAL, ACIDURIE METHYLMALONIQUE ET HOMOCYSTINURIE PAR DEFICIT INTRACELLULAIRE DE LA VITAMINE B12 [1] , 1994 .
[26] D. Valle,et al. Cobalamin C defect associated with hemolytic-uremic syndrome. , 1992, The Journal of pediatrics.
[27] J. Doyon,et al. A congenital anomaly of vitamin B12 metabolism: a study of three cases. , 1992, Human pathology.
[28] W. Nyhan,et al. Proximal renal tubular acidosis in methylmalonic acidemia. , 1985, Journal of neurogenetics.
[29] J. Graeber,et al. Effect of Homocysteine and Homocystine on Platelet and Vascular Arachidonic Acid Metabolism , 1982, Pediatric Research.
[30] R. Carmel,et al. Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. , 1980, Blood.
[31] E. R. Baumgartner,et al. Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology. , 1979, Helvetica paediatrica acta.