methylmalonate semialdehyde dehydrogenase
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Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case

2020 ◽  
Vol 129 (4) ◽  
pp. 272-277
Author(s):  
Steven F. Dobrowolski ◽  
Ahmad Alodaib ◽  
Anuradha Karunanidhi ◽  
Shrabini Basu ◽  
Meghan Holecko ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase

scholarly journals Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review

2018 ◽  
pp. 55-60
Author(s):  
Morteza Alijanpour Aghamaleki ◽  
Masoomeh Rezapour ◽  
Kazem Babazadeh ◽  
Hassan Zamani ◽  
Faeze Aghajanpour
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase

scholarly journals Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

2013 ◽  
Vol 8 (1) ◽  
pp. 98 ◽  
Author(s):  
Julien L Marcadier ◽  
Amanda M Smith ◽  
Daniela Pohl ◽  
Jeremy Schwartzentruber ◽  
Osama Y Al-Dirbashi ◽  
...  
Keyword(s):  
Methylmalonic Aciduria ◽  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase

scholarly journals Adenine Binding Mode Is a Key Factor in Triggering the Early Release of NADH in Coenzyme A-dependent Methylmalonate Semialdehyde Dehydrogenase

2012 ◽  
Vol 287 (37) ◽  
pp. 31095-31103 ◽  
Author(s):  
Raphaël Bchini ◽  
Hélène Dubourg-Gerecke ◽  
Sophie Rahuel-Clermont ◽  
André Aubry ◽  
Guy Branlant ◽  
...  
Keyword(s):  
Coenzyme A ◽  
Binding Mode ◽  
Early Release ◽  
Semialdehyde Dehydrogenase ◽  
Key Factor ◽  
Methylmalonate Semialdehyde Dehydrogenase

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase

2011 ◽  
Vol 35 (3) ◽  
pp. 437-442 ◽  
Author(s):  
Jörn Oliver Sass ◽  
Melanie Walter ◽  
Julian P. H. Shield ◽  
Andrea M. Atherton ◽  
Uttam Garg ◽  
...  
Keyword(s):  
Semialdehyde Dehydrogenase ◽  
Gene Coding ◽  
Methylmalonate Semialdehyde Dehydrogenase

scholarly journals Methylmalonate-semialdehyde Dehydrogenase fromBacillus subtilis

2011 ◽  
Vol 286 (25) ◽  
pp. 21971-21981 ◽  
Author(s):  
François Talfournier ◽  
Claire Stines-Chaumeil ◽  
Guy Branlant
Keyword(s):  
Semialdehyde Dehydrogenase ◽  
Methylmalonate Semialdehyde Dehydrogenase
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