Literature DB >> 11603477

Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria.

M K Heinemann1, M Tomaske, F K Trefz, A Bosk, W Baden, G Ziemer.   

Abstract

Methylmalonic acidemia with associated homocystinuria is a rare inborn error of amino acid metabolism affecting energy supply on the cellular level. Its effects on recovery from surgically induced organ ischemia are largely unknown. We report the successful closure of a nonrestrictive ventricular septal defect by following a normothermic strategy combined with ample metabolic substrate supply.

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Year:  2001        PMID: 11603477     DOI: 10.1016/s0003-4975(00)02605-9

Source DB:  PubMed          Journal:  Ann Thorac Surg        ISSN: 0003-4975            Impact factor:   4.330


  4 in total

Review 1.  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

2.  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

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.  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

  4 in total

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