Literature DB >> 11596656

CblC/D defect combined with haemodynamically highly relevant VSD.

M Tomaske1, A Bosk, M K Heinemann, L Sieverding, E R Baumgartner, B Fowler, F K Trefz.   

Abstract

An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.

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Year:  2001        PMID： 11596656     DOI： 10.1023/a:1010541932476

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


  2 in total

Review 1.  Remethylation defects: guidelines for clinical diagnosis and treatment.

Authors:  H Ogier de Baulny; M Gérard; J M Saudubray; J Zittoun
Journal:  Eur J Pediatr       Date:  1998-04       Impact factor: 3.183

Review 2.  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
  2 in total
  7 in total

Review 1.  Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

Authors:  Nuria Carrillo-Carrasco; Randy J Chandler; 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.  Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

Authors:  Raymond Y Wang; Richard C Chang; Mary E Sowa; Anthony C Chang; Jose E Abdenur
Journal:  World J Pediatr       Date:  2014-01-25       Impact factor: 2.764

4.  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

5.  Successful intrauterine treatment of a patient with cobalamin C defect.

Authors:  Friedrich K Trefz; Dagmar Scheible; Georg Frauendienst-Egger; Martina Huemer; Terttu Suomala; Brian Fowler; Dorothea Haas; Matthias R Baumgartner
Journal:  Mol Genet Metab Rep       Date:  2016-02-04

Review 6.  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

7.  Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review.

Authors:  Jun Zhu; Shuisen Wan; Xueqi Zhao; Binlu Zhu; Yuan Lv; Hongkun Jiang
Journal:  Front Genet       Date:  2022-04-14       Impact factor: 4.772
  7 in total

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