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4 in total

1. Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?

Authors: K M Gibson; C F Lee; M J Bennett; B Holmes; W L Nyhan
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

2. Age-related reference values for urinary organic acids in a healthy Turkish pediatric population.

Authors: F Guneral; C Bachmann
Journal: Clin Chem Date: 1994-06 Impact factor: 8.327

Review 3. Physiology and pathophysiology of organic acids in cerebrospinal fluid.

Authors: G F Hoffmann; W Meier-Augenstein; S Stöckler; R Surtees; D Rating; W L Nyhan
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

4. Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.

Authors: R J Pollitt; A Green; R Smith
Journal: J Inherit Metab Dis Date: 1985 Impact factor: 4.982

4 in total

5 in total

1. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Authors: Jörn Oliver Sass; Melanie Walter; Julian P H Shield; Andrea M Atherton; Uttam Garg; David Scott; C Geoffrey Woods; Laurie D Smith
Journal: J Inherit Metab Dis Date: 2011-08-24 Impact factor: 4.982

2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

Authors: K L Chambliss; R G Gray; G Rylance; R J Pollitt; K M Gibson
Journal: J Inherit Metab Dis Date: 2000-07 Impact factor: 4.982

3. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

Authors: Ronald J A Wanders; Marinus Duran; Ference J Loupatty
Journal: J Inherit Metab Dis Date: 2010-11-23 Impact factor: 4.982

4. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

Authors: Julien L Marcadier; Amanda M Smith; Daniela Pohl; Jeremy Schwartzentruber; Osama Y Al-Dirbashi; Jacek Majewski; Sacha Ferdinandusse; Ronald J A Wanders; Dennis E Bulman; Kym M Boycott; Pranesh Chakraborty; Michael T Geraghty
Journal: Orphanet J Rare Dis Date: 2013-07-09 Impact factor: 4.123

5. Disorders of branched chain amino acid metabolism.

Authors: I Manoli; C P Venditti
Journal: Transl Sci Rare Dis Date: 2016-11-07

5 in total