Literature DB >> 7609455

Malonic aciduria and cardiomyopathy.

R Matalon1, K Michaels, R Kaul, V Whitman, J Rodriguez-Novo, S Goodman, D Thorburn.   

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Year:  1993        PMID： 7609455     DOI： 10.1007/BF00711684

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


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  7 in total

1.  Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture.

Authors:  R Matalon; A Dorfman
Journal:  Proc Natl Acad Sci U S A       Date:  1966-10       Impact factor: 11.205

2.  Properties of malonyl-CoA decarboxylase and its relation with malonyl-CoA incorporation into fatty acids by rat liver mitochondria.

Authors:  C Landriscina; G V Gnoni; E Quagliariello
Journal:  Eur J Biochem       Date:  1971-04-30

3.  The source of malonyl-CoA in rat heart. The calcium paradox releases acetyl-CoA carboxylase and not propionyl-CoA carboxylase.

Authors:  H R Scholte; I E Luyt-Houwen; M L Dubelaar; W C Hulsmann
Journal:  FEBS Lett       Date:  1986-03-17       Impact factor: 4.124

4.  Diagnosis of organic acidemias by gas chromatography--mass spectrometry.

Authors:  S I Goodman; S P Markey
Journal:  Lab Res Methods Biol Med       Date:  1981

5.  Malonate metabolism in rat brain mitochondria.

Authors:  A H Koeppen; E J Mitzen; A A Ammoumi
Journal:  Biochemistry       Date:  1974-08-13       Impact factor: 3.162

6.  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

7.  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
  7 in total
  12 in total

1.  Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.

Authors:  Chandra Shekar R Ambati; Furong Yuan; Lutfi A Abu-Elheiga; Yiqing Zhang; Vivekananda Shetty
Journal:  J Am Soc Mass Spectrom       Date:  2017-03-17       Impact factor: 3.109

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

Authors:  M B Krawinkel; H D Oldigs; R Santer; W Lehnert; U Wendel; J Schaub
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

Review 3.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

4.  Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Authors:  Fabian Baertling; Ertan Mayatepek; Eva Thimm; Andrea Schlune; Alexander Kovacevic; Felix Distelmaier; Gajja S Salomons; Thomas Meissner
Journal:  Eur J Pediatr       Date:  2014-09-20       Impact factor: 3.183

5.  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

6.  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

7.  Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.

Authors:  C Ficicioglu; M R K Chrisant; I Payan; D H Chace
Journal:  Pediatr Cardiol       Date:  2005 Nov-Dec       Impact factor: 1.655

8.  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

9.  3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  J L van Hove; S L Rutledge; M A Nada; S G Kahler; D S Millington
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

10.  Chemical-genetic induction of Malonyl-CoA decarboxylase in skeletal muscle.

Authors:  Susana Rodriguez; Jessica M Ellis; Michael J Wolfgang
Journal:  BMC Biochem       Date:  2014-08-25       Impact factor: 4.059
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