{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:27:28Z","timestamp":1790486848466,"version":"4.1.0"},"reference-count":100,"publisher":"JLE","issue":"4","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,12]],"date-time":"2020-06-12T00:00:00Z","timestamp":1591920000000},"content-version":"am","delay-in-days":347,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["N\u00e9phrologie &amp; Th\u00e9rapeutique"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1016\/j.nephro.2019.03.011","type":"journal-article","created":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T22:08:24Z","timestamp":1558649304000},"page":"201-214","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Atteintes r\u00e9nales au cours du d\u00e9ficit en cobalamine C"],"prefix":"10.1684","volume":"15","author":[{"given":"Mathilde","family":"Lemoine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Grang\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Guerrot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"18929","reference":[{"key":"10.1016\/j.nephro.2019.03.011_bib0505","series-title":"Human vitamin and mineral requirements","author":"Food Agriculture Organization","year":"2001"},{"key":"10.1016\/j.nephro.2019.03.011_bib0510","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1146\/annurev.micro.50.1.137","article-title":"Cobalamin (coenzyme B12)\u00a0: synthesis and biological significance","volume":"50","author":"Roth","year":"1996","journal-title":"Annu Rev Microbiol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0515","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3109\/00365529109111222","article-title":"Intrinsic factor secretion cobalamin absorption. Physiology and pathophysiology in the gastrointestinal tract","volume":"188","author":"Festen","year":"1991","journal-title":"Scand J Gastroenterol Suppl"},{"key":"10.1016\/j.nephro.2019.03.011_bib0520","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.biochi.2015.11.006","article-title":"Absorption and blood\/cellular transport of folate and cobalamin: Pharmacokinetic and physiological considerations","volume":"126","author":"Alpers","year":"2016","journal-title":"Biochimie"},{"key":"10.1016\/j.nephro.2019.03.011_bib0525","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.nu.07.070187.001451","article-title":"Inherited defects of vitamin B metabolism","volume":"7","author":"Cooper","year":"1987","journal-title":"Annu Rev Nutr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0530","unstructured":"Carrillo N, Adams D, Venditti CP. Disorders of intracellular cobalamin metabolism; 2008 www.ncbi.nlm.nih.gov\/books\/NBK1328\/."},{"key":"10.1016\/j.nephro.2019.03.011_bib0535","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/0006-291X(69)90491-4","article-title":"A derangement in B12\u00a0metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria","volume":"35","author":"Mudd","year":"1969","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.nephro.2019.03.011_bib0540","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1007\/s10545-014-9687-6","article-title":"Clinical presentation and outcome in a series of 88\u00a0patients with the cblC defect","volume":"37","author":"Fischer","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0545","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ymgme.2009.09.008","article-title":"Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte","volume":"99","author":"Weisfeld-Adams","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0550","doi-asserted-by":"crossref","unstructured":"Cusmano-Ozog K, Lorey F, Levine S, Martin M, Nicholas E, Packman S, et al. Cobalamin C disease and expanded newborn screening: The California experience; 2007, www.researchgate.net\/publication\/278336660_Cobalamin_c_disease_and_expanded_newborn_screening_The_California_experience.","DOI":"10.1097\/00042871-200701010-00090"},{"key":"10.1016\/j.nephro.2019.03.011_bib0555","doi-asserted-by":"crossref","first-page":"14551","DOI":"10.1073\/pnas.0805989105","article-title":"Decyanation of vitamin B12\u00a0by a trafficking chaperone","volume":"105","author":"Kim","year":"2008","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.nephro.2019.03.011_bib0560","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s10545-010-9161-z","article-title":"Cobalamin C. defect: natural history, pathophysiology, and treatment","volume":"34","author":"Martinelli","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0565","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.ymgme.2009.04.005","article-title":"Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product","volume":"97","author":"Hannibal","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0570","doi-asserted-by":"crossref","first-page":"33418","DOI":"10.1074\/jbc.M109.057877","article-title":"A human vitamin B12\u00a0trafficking protein uses glutathione transferase activity for processing alkylcobalamins","volume":"284","author":"Kim","year":"2009","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nephro.2019.03.011_bib0575","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s10545-011-9364-y","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type I. Clinical presentations, diagnosis and management","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0580","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1023\/A:1005353530303","article-title":"Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)","volume":"20","author":"Rosenblatt","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0585","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-014-0161-1","article-title":"Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy","volume":"9","author":"Huemer","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0590","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1046\/j.1528-1157.2002.24001.x","article-title":"Early-onset cobalamin C\/D deficiency: epilepsy and electroencephalographic features","volume":"43","author":"Biancheri","year":"2002","journal-title":"Epilepsia"},{"key":"10.1016\/j.nephro.2019.03.011_bib0595","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1055\/s-2005-873057","article-title":"MRI and 1H-MRS findings in early-onset cobalamin C\/D defect","volume":"36","author":"Longo","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nephro.2019.03.011_bib0600","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10545-011-9365-x","article-title":"Combined methylmalonic acidemia and homocystinuria, cblC type II. Complications, pathophysiology, and outcomes","volume":"35","author":"Carrillo-Carrasco","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0605","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.ymgme.2006.02.007","article-title":"Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12","volume":"88","author":"Smith","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0610","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1055\/s-2005-865609","article-title":"Assessment of visual function in children with methylmalonic aciduria and homocystinuria","volume":"36","author":"Ricci","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nephro.2019.03.011_bib0615","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.jaapos.2008.06.008","article-title":"Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type","volume":"12","author":"Gerth","year":"2008","journal-title":"Am Assoc Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.nephro.2019.03.011_bib0620","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1080\/13816810500481758","article-title":"The natural history of retinal degeneration in association with cobalamin C (cblC) disease","volume":"27","author":"Schimel","year":"2006","journal-title":"Ophthalmic Genet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0625","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.ymgme.2015.01.012","article-title":"Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance","volume":"114","author":"Weisfeld-Adams","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0630","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1136\/jnnp.2007.133025","article-title":"The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum","volume":"79","author":"Thauvin-Robinet","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nephro.2019.03.011_bib0635","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1053\/j.ajkd.2004.12.004","article-title":"Late-onset thrombocytic microangiopathy caused by cblC disease: Association with a factor H mutation","volume":"45","author":"Guigonis","year":"2005","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0640","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajmg.10499","article-title":"Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy: Late-onset cobalamin C disorder","volume":"111","author":"Van Hove","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0645","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1007\/s00467-002-0895-1","article-title":"deficiency complicated by an atypical glomerulopathy","volume":"17","author":"Brunelli","year":"2002","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0650","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1016\/S0022-3476(05)81967-5","article-title":"Cobalamin C defect associated with hemolytic-uremic syndrome","volume":"120","author":"Geraghty","year":"1992","journal-title":"J Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0655","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/ajmg.1320360208","article-title":"Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1-C type)","volume":"36","author":"Brandstetter","year":"1990","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0660","doi-asserted-by":"crossref","first-page":"e248","DOI":"10.1542\/peds.2012-1945","article-title":"Cobalamin C defect presenting with isolated pulmonary hypertension","volume":"132","author":"Iodice","year":"2013","journal-title":"Pediatrics"},{"key":"10.1016\/j.nephro.2019.03.011_bib0665","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1007\/s00431-014-2330-6","article-title":"Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene","volume":"173","author":"G\u00fcnd\u00fcz","year":"2014","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0670","doi-asserted-by":"crossref","first-page":"e540","DOI":"10.1542\/peds.2012-2581","article-title":"Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency","volume":"132","author":"K\u00f6mhoff","year":"2013","journal-title":"Pediatrics"},{"key":"10.1016\/j.nephro.2019.03.011_bib0675","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.ymgme.2009.07.017","article-title":"High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria","volume":"98","author":"Profitlich","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0680","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng1683","article-title":"Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type","volume":"38","author":"Lerner-Ellis","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0685","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1007\/s00467-016-3399-0","article-title":"Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity","volume":"32","author":"Beck","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0690","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.21001","article-title":"Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations","volume":"30","author":"Lerner-Ellis","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nephro.2019.03.011_bib0695","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ymgme.2006.04.001","article-title":"Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype-genotype correlations and ethnic-specific observations","volume":"88","author":"Morel","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0700","doi-asserted-by":"crossref","first-page":"5083","DOI":"10.1021\/bi300150y","article-title":"Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12\u00a0processing function","volume":"51","author":"Froese","year":"2012","journal-title":"Biochemistry"},{"key":"10.1016\/j.nephro.2019.03.011_bib0705","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ymgme.2010.02.005","article-title":"Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder","volume":"100","author":"Froese","year":"2010","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0710","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1007\/s10545-009-1257-y","article-title":"Hydroxocobalamin dose escalation improves metabolic control in cblC","volume":"32","author":"Carrillo-Carrasco","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0715","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0140-6736(81)90649-8","article-title":"Pathogenesis of subacute combined degeneration: a result of methyl group deficiency","volume":"2","author":"Scott","year":"1981","journal-title":"Lancet Lond Engl"},{"key":"10.1016\/j.nephro.2019.03.011_bib0720","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1056\/NEJMra020528","volume":"347","author":"Moake","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nephro.2019.03.011_bib0725","doi-asserted-by":"crossref","DOI":"10.1016\/S0140-6736(17)30062-4","article-title":"Haemolytic uraemic syndrome","author":"Fakhouri","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0730","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1097\/MOG.0b013e3282f2dfb8","article-title":"Pathogenesis and treatment of Shiga toxin-producing Escherichia coli infections","volume":"24","author":"Serna","year":"2008","journal-title":"Curr Opin Gastroenterol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0735","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1056\/NEJMra1312353","article-title":"Syndromes of thrombotic microangiopathy","volume":"371","author":"George","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nephro.2019.03.011_bib0740","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/j.semarthrit.2013.11.004","article-title":"Thrombotic microangiopathies","volume":"43","author":"Rosove","year":"2014","journal-title":"Semin Arthritis Rheum"},{"key":"10.1016\/j.nephro.2019.03.011_bib0745","first-page":"465","article-title":"Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria I. Case report and histopathology","volume":"34","author":"Baumgartner","year":"1979","journal-title":"Helv Paediatr Acta"},{"key":"10.1016\/j.nephro.2019.03.011_bib0750","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1007\/s00467-015-3110-x","article-title":"Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency","volume":"30","author":"Koenig","year":"2015","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0755","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1007\/s12519-015-0032-4","article-title":"Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children","volume":"11","author":"Li","year":"2015","journal-title":"World J Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0760","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1007\/s00467-007-0604-1","article-title":"Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder","volume":"22","author":"Sharma","year":"2007","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0765","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/0046-8177(92)90127-O","article-title":"A congenital anomaly of vitamin B12\u00a0metabolism: a study of three cases","volume":"23","author":"Russo","year":"1992","journal-title":"Hum Pathol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0770","first-page":"749","article-title":"Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B12\u00a0deficiency. Value of etiological diagnosis","volume":"50","author":"Chenel","year":"1993","journal-title":"Arch Fr Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0775","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1007\/s00467-009-1188-8","article-title":"Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome","volume":"24","author":"Davin","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0780","doi-asserted-by":"crossref","first-page":"27","DOI":"10.2174\/1389200052997357","article-title":"Mechanisms of increased vascular oxidant stress in hyperhomocysteinemia and its impact on endothelial function","volume":"6","author":"Weiss","year":"2005","journal-title":"Curr Drug Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0785","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1172\/JCI116187","article-title":"Adverse vascular effects of homocysteine are modulated by endothelium-derived relaxing factor and related oxides of nitrogen","volume":"91","author":"Stamler","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nephro.2019.03.011_bib0790","doi-asserted-by":"crossref","first-page":"17012","DOI":"10.1074\/jbc.272.27.17012","article-title":"Homocyst(e)ine decreases bioavailable nitric oxide by a mechanism involving glutathione peroxidase","volume":"272","author":"Upchurch","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nephro.2019.03.011_bib0795","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1182\/blood.V75.4.895.895","article-title":"Homocysteine, an atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells","volume":"75","author":"Rodgers","year":"1990","journal-title":"Blood"},{"key":"10.1016\/j.nephro.2019.03.011_bib0800","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1172\/JCI115514","article-title":"Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine","volume":"88","author":"Lentz","year":"1991","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nephro.2019.03.011_bib0805","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1172\/JCI116532","article-title":"Homocysteine-induced modulation of tissue plasminogen activator binding to its endothelial cell membrane receptor","volume":"91","author":"Hajjar","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nephro.2019.03.011_bib0810","doi-asserted-by":"crossref","first-page":"9987","DOI":"10.1074\/jbc.273.16.9987","article-title":"Tissue plasminogen activator binding to the annexin II tail domain. Direct modulation by homocysteine","volume":"273","author":"Hajjar","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nephro.2019.03.011_bib0815","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1172\/JCI112519","article-title":"Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator","volume":"77","author":"Rodgers","year":"1986","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nephro.2019.03.011_bib0820","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1161\/01.ATV.13.9.1327","article-title":"Homocysteine, a risk factor for premature vascular disease and thrombosis, induces tissue factor activity in endothelial cells","volume":"13","author":"Fryer","year":"1993","journal-title":"Arterioscler Thromb J Vasc Biol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0825","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/0049-3848(80)90175-9","article-title":"Homocysteine-induced endothelial cell injury in vitro: a model for the study of vascular injury","volume":"18","author":"Wall","year":"1980","journal-title":"Thromb Res"},{"key":"10.1016\/j.nephro.2019.03.011_bib0830","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1172\/JCI112442","article-title":"Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine","volume":"77","author":"Starkebaum","year":"1986","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nephro.2019.03.011_bib0835","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1056\/NEJM197409122911101","article-title":"Homocystinemia Vascular injury arterial thrombosis","volume":"291","author":"Harker","year":"1974","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nephro.2019.03.011_bib0840","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1089\/ars.2007.1750","article-title":"Vascular oxidant stress and inflammation in hyperhomocysteinemia","volume":"9","author":"Papatheodorou","year":"2007","journal-title":"Antioxid Redox Signal"},{"key":"10.1016\/j.nephro.2019.03.011_bib0845","first-page":"477","article-title":"Chemical pathology of homocysteine I. Atherogenesis","volume":"23","author":"McCully","year":"1993","journal-title":"Ann Clin Lab Sci"},{"key":"10.1016\/j.nephro.2019.03.011_bib0850","first-page":"349","article-title":"Homocysteine thiolactone N-homocysteine thiolactonyl retinamide, and platelet aggregation","volume":"56","author":"McCully","year":"1987","journal-title":"Res Commun Chem Pathol Pharmacol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0855","first-page":"1","article-title":"The natural history of homocystinuria due to cystathionine \u03b2-synthase deficiency","volume":"37","author":"Mudd","year":"1985","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0860","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1007\/s004310051190","article-title":"Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency","volume":"158","author":"Labrune","year":"1999","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0865","doi-asserted-by":"crossref","first-page":"2547","DOI":"10.1007\/s00467-010-1609-8","article-title":"CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency","volume":"25","author":"Bouts","year":"2010","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0870","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s10143-004-0349-2","article-title":"The hydrodynamic hypothesis versus the bulk flow hypothesis","volume":"27","author":"Greitz","year":"2004","journal-title":"Neurosurg Rev"},{"key":"10.1016\/j.nephro.2019.03.011_bib0875","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/j.ekir.2018.05.015","article-title":"deficiency induces a typical histopathological pattern of renal arteriolar and glomerular thrombotic microangiopathy","volume":"3","author":"Lemoine","year":"2018","journal-title":"Kidney Int Rep"},{"key":"10.1016\/j.nephro.2019.03.011_bib0880","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1007\/s00467-013-2443-6","article-title":"Atypical glomerulopathy associated with the cblE inborn error of vitamin B12\u00a0metabolism","volume":"28","author":"Paul","year":"2013","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0885","doi-asserted-by":"crossref","DOI":"10.1007\/s00467-017-3615-6","article-title":"Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls","author":"Vaisbich","year":"2017","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0890","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1093\/qjmed\/hct142","article-title":"Hemolysis and schistocytosis in the emergency department: consider pseudothrombotic microangiopathy related to vitamin B12\u00a0deficiency","volume":"106","author":"Noel","year":"2013","journal-title":"QJM"},{"key":"10.1016\/j.nephro.2019.03.011_bib0895","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/j.1365-2257.2006.00755.x","article-title":"Current hematological findings in cobalamin deficiency. A study of 201\u00a0consecutive patients with documented cobalamin deficiency","volume":"28","author":"Andr\u00e8s","year":"2006","journal-title":"Clin Lab Haematol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0900","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1016\/j.amjmed.2006.02.001","article-title":"Pseudo-thrombotic microangiopathy related to cobalamin deficiency","volume":"119","author":"Andr\u00e8s","year":"2006","journal-title":"Am J Med"},{"key":"10.1016\/j.nephro.2019.03.011_bib0905","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s00467-012-2245-2","article-title":"Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist","volume":"28","author":"Morath","year":"2013","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0910","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1007\/BF00711749","article-title":"Long-term follow-up of 77\u00a0patients with isolated methylamalonic acidaemia","volume":"18","author":"Baumgarter","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0915","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1007\/BF00867492","article-title":"Progressive renal insufficiency in methylmalonic acidemia","volume":"5","author":"Molteni","year":"1991","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0920","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1007\/BF00444131","article-title":"Chronic renal failure in methylmalonic acidaemia","volume":"148","author":"Walter","year":"1989","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0925","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/BF01955526","article-title":"Renal tubular dysfunction in methylmalonic acidaemia","volume":"150","author":"D\u2019angio","year":"1991","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nephro.2019.03.011_bib0930","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.ymgme.2009.03.006","article-title":"Long-term outcome in methylmalonic aciduria: A series of 30\u00a0French patients","volume":"97","author":"Cosson","year":"2009","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nephro.2019.03.011_bib0935","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1203\/PDR.0b013e3180a0325f","article-title":"Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut\u2013, cblA, cblB)","volume":"62","author":"H\u00f6rster","year":"2007","journal-title":"Pediatr Res"},{"key":"10.1016\/j.nephro.2019.03.011_bib0940","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF00861581","article-title":"Tubulointerstitial nephritis in methylmalonic acidemia","volume":"7","author":"Rutledge","year":"1993","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0945","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3109\/01677068509100141","article-title":"Proximal renal tubular acidosis in methylmalonic acidemia","volume":"2","author":"Wolff","year":"1985","journal-title":"J Neurogenet"},{"key":"10.1016\/j.nephro.2019.03.011_bib0950","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1007\/s10545-009-1197-6","article-title":"Long-term exposure of human proximal tubule cells to hydroxycobalamin [c-lactam] as a possible model to study renal disease in methylmalonic acidurias","volume":"32","author":"Sauer","year":"2009","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0955","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00467-003-1128-y","article-title":"Proteinuria in cubilin-deficient patients with selective vitamin B12\u00a0malabsorption","volume":"18","author":"Wahlstedt-Fr\u00f6berg","year":"2003","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0960","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1053\/j.ajkd.2013.08.031","article-title":"Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency","volume":"63","author":"Cornec-Le Gall","year":"2014","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.nephro.2019.03.011_bib0965","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1016\/S0140-6736(15)00076-8","article-title":"Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency","volume":"386","author":"Grang\u00e9","year":"2015","journal-title":"Lancet Lond Engl"},{"key":"10.1016\/j.nephro.2019.03.011_bib0970","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.lpm.2015.10.014","article-title":"Syndrome h\u00e9molytique et ur\u00e9mique de l\u2019adulte jeune par trouble du m\u00e9tabolisme de la cobalamine: \u00e0 propos d\u2019un cas","volume":"45","author":"Medhioub Kaaniche","year":"2016","journal-title":"Press Med"},{"key":"10.1016\/j.nephro.2019.03.011_bib0975","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1182\/blood.V55.4.570.570","article-title":"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","volume":"55","author":"Carmel","year":"1980","journal-title":"Blood"},{"key":"10.1016\/j.nephro.2019.03.011_bib0980","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1097\/00043426-200205000-00023","article-title":"disease presenting as hemolytic-uremic syndrome in the neonatal period","volume":"24","author":"Kind","year":"2002","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0985","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1002\/humu.21107","article-title":"Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)","volume":"30","author":"Richard","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nephro.2019.03.011_bib0990","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1007\/s00467-012-2152-6","article-title":"Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria","volume":"27","author":"Menni","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.nephro.2019.03.011_bib0995","first-page":"1885","article-title":"Combined methylmalonic acidemia and homocystinuria\u00a0; a case report","volume":"31","author":"Jim\u00e9nez Varo","year":"2015","journal-title":"Nutr Hosp"},{"key":"10.1016\/j.nephro.2019.03.011_bib0500","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1111\/ped.12953","article-title":"defect-hemolytic uremic syndrome caused by new mutation in MMACHC: Rare cause of aHUS","volume":"58","author":"Adrovic","year":"2016","journal-title":"Pediatr Int"}],"container-title":["N\u00e9phrologie &amp; Th\u00e9rapeutique"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769725519301208?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769725519301208?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.jle.com\/10.1016\/j.nephro.2019.03.011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T14:36:48Z","timestamp":1741185408000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769725519301208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":100,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["S1769725519301208"],"URL":"https:\/\/doi.org\/10.1016\/j.nephro.2019.03.011","relation":{},"ISSN":["1769-7255"],"issn-type":[{"value":"1769-7255","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Atteintes r\u00e9nales au cours du d\u00e9ficit en cobalamine C","name":"articletitle","label":"Article Title"},{"value":"N\u00e9phrologie & Th\u00e9rapeutique","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nephro.2019.03.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Soci\u00e9t\u00e9 francophone de n\u00e9phrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}