Literature DB >> 7837777

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.

M B Krawinkel1, H D Oldigs, R Santer, W Lehnert, U Wendel, J Schaub.   

Abstract

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Year:  1994        PMID： 7837777     DOI： 10.1007/bf00711609

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


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  3 in total

1.  Malonic aciduria and cardiomyopathy.

Authors:  R Matalon; K Michaels; R Kaul; V Whitman; J Rodriguez-Novo; S Goodman; D Thorburn
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Malonyl coenzyme A decarboxylase deficiency.

Authors:  G K Brown; R D Scholem; A Bankier; D M Danks
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect.

Authors:  E A Haan; R D Scholem; H B Croll; G K Brown
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183
  3 in total
  6 in total

1.  Cloning and expression of rat pancreatic beta-cell malonyl-CoA decarboxylase.

Authors:  N Voilley; R Roduit; R Vicaretti; C Bonny; G Waeber; J R Dyck; G D Lopaschuk; M Prentki
Journal:  Biochem J       Date:  1999-05-15       Impact factor: 3.857

2.  The molecular basis of malonyl-CoA decarboxylase deficiency.

Authors:  D R FitzPatrick; A Hill; J L Tolmie; D R Thorburn; J Christodoulou
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

3.  Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

Authors:  D P O'Brien; B A Barshop; K K Faunt; G C Johnson; K M Gibson; G D Shelton
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

4.  Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

Authors:  A R Gregg; A W Warman; D R Thorburn; W E O'Brien
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

5.  A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.

Authors:  Melike Ersoy; Mehmet Bedir Akyol; Serdar Ceylaner; Nihan Çakır Biçer
Journal:  Clin Case Rep       Date:  2017-06-28

6.  Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.

Authors:  Sarah Snanoudj; Stéphanie Torre; Bénédicte Sudrié-Arnaud; Lenaig Abily-Donval; Alice Goldenberg; Gajja S Salomons; Stéphane Marret; Soumeya Bekri; Abdellah Tebani
Journal:  Int J Mol Sci       Date:  2021-11-23       Impact factor: 5.923
  6 in total

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