Literature DB >> 9501265

The association of protein-losing enteropathy with cobalamin C defect.

C Ellaway1, J Christodoulou, R Kamath, K Carpenter, B Wilcken.   

Abstract

We report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein-losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein-losing enteropathy has not previously been reported in association with cobalamin C defect and, if unrecognized, could cause considerable morbidity.

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Year:  1998        PMID： 9501265     DOI： 10.1023/a:1005303128904

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  9 in total

1.  Cobalamin C defect associated with hemolytic-uremic syndrome.

Authors:  M T Geraghty; E J Perlman; L S Martin; S J Hayflick; J F Casella; D S Rosenblatt; D Valle
Journal:  J Pediatr       Date:  1992-06       Impact factor: 4.406

2.  A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.

Authors:  H L Levy; S H Mudd; J D Schulman; P M Dreyfus; R H Abeles
Journal:  Am J Med       Date:  1970-03       Impact factor: 4.965

3.  Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.

Authors:  K S McCully
Journal:  Am J Pathol       Date:  1969-07       Impact factor: 4.307

4.  Postnatal changes in some red cell parameters.

Authors:  Y Matoth; R Zaizov; I Varsano
Journal:  Acta Paediatr Scand       Date:  1971-05

Review 5.  A congenital anomaly of vitamin B12 metabolism: a study of three cases.

Authors:  P Russo; J Doyon; E Sonsino; H Ogier; J M Saudubray
Journal:  Hum Pathol       Date:  1992-05       Impact factor: 3.466

6.  Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

Authors:  A Ribes; P Briones; M A Vilaseca; M Lluch; M Rodes; A Maya; J Campistol; P Pascual; T Suormala; R Baumgartner
Journal:  Eur J Pediatr       Date:  1990-03       Impact factor: 3.183

7.  Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.

Authors:  E R Baumgartner; H Wick; R Maurer; N Egli; B Steinmann
Journal:  Helv Paediatr Acta       Date:  1979

8.  Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

Authors:  G A Mitchell; D Watkins; S B Melançon; D S Rosenblatt; G Geoffroy; J Orquin; M B Homsy; L Dallaire
Journal:  J Pediatr       Date:  1986-03       Impact factor: 4.406

9.  Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

Authors:  D W Bartholomew; M L Batshaw; R H Allen; C R Roe; D Rosenblatt; D L Valle; C A Francomano
Journal:  J Pediatr       Date:  1988-01       Impact factor: 4.406
  9 in total
  5 in total

Review 1.  Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Authors:  Nuria Carrillo-Carrasco; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

Review 2.  Cobalamin C defect: natural history, pathophysiology, and treatment.

Authors:  Diego Martinelli; Federica Deodato; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2010-07-15       Impact factor: 4.982

3.  Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:  Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2014-03-06       Impact factor: 4.982

4.  Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Authors:  Brian P Brooks; Amy H Thompson; Jennifer L Sloan; Irini Manoli; Nuria Carrillo-Carrasco; Wadih M Zein; Charles P Venditti
Journal:  Ophthalmology       Date:  2016-01-26       Impact factor: 12.079

Review 5.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982
  5 in total

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