Literature DB >> 9501274

Fatal neonatal malonic aciduria.

B Buyukgebiz1, C Jakobs, H R Scholte, J G Huijmans, W J Kleijer.   

Abstract

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Year:  1998        PMID： 9501274     DOI： 10.1023/a:1005371616609

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


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  3 in total

1.  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

2.  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.  Malonic aciduria.

Authors:  P T Ozand; W L Nyhan; A al Aqeel; J Christodoulou
Journal:  Brain Dev       Date:  1994-11       Impact factor: 1.961
  3 in total
  4 in total

1.  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

2.  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

3.  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

4.  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
  4 in total

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