3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

By Wortmann Saskia   Kluijtmans Leo   Rodenburg Richard   Sass Jörn   Nouws Jessica   Kaauwen Edwin   Kleefstra Tjitske   Tranebjaerg Lisbeth   Vries Maaike   Isohanni Pirjo   Walter Katharina   Alkuraya Fowzan   Smuts Izelle   Reinecke Carolus   Westhuizen Francois   Thorburn David   Smeitink Jan   Morava Eva   Wevers Ron  

Journal of Inherited Metabolic Disease, Vol. 36, Iss. 6, 2013-11 ,pp. : 913-921

Springer Publishing Company

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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

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Journal of Inherited Metabolic Disease, Vol. 36, Iss. 6, 2013-11 ,pp. : 923-928

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Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

By Christensen M.   Duno M.   Lund A.   Skovby F.   Christensen E.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 2, 2007-04 ,pp. : 248-255

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The 3-methylglutaconic acidurias: what's new?

By Wortmann Saskia  

Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 13-22

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Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria

By Pospíšilová E.   Mrázová L.   Hrdá J.   Martincová O.   Zeman J.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 433-441

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