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DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic AciduriaDANHAUSER, Katharina; SAUER, Sven W; MEITINGER, Thomas et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1082-1087, issn 0002-9297, 6 p.Article

Mutations in phenotypically mild D-2-hydroxyglutaric aciduriaSTRUYS, Eduard A; KORMAN, Stanley H; SALOMONS, Gajja S et al.Annals of neurology. 2005, Vol 58, Num 4, pp 626-630, issn 0364-5134, 5 p.Article

3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathyWORTMANN, S. B; KREMER, B. H; WILCKEN, B et al.Neurology. 2010, Vol 75, Num 12, pp 1079-1083, issn 0028-3878, 5 p.Article

3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onsetERIGUCHI, M; MIZUTA, H; KUROHARA, K et al.Neurology. 2006, Vol 67, Num 10, pp 1895-1896, issn 0028-3878, 2 p.Article

L'acidurie argininosuccinique à propos d'un nouveau cas révélé par des troubles psychiatriques = Argininosuccinic aciduria: a new cases revealed by psychiatric disordersODENT, S; ROUSSEY, M; JOURNEL, H et al.Journal de génétique humaine. 1989, Vol 37, Num 1, pp 39-42, issn 0021-7743, 4 p.Article

A SUCCESSFULLY TREATED ADULT PATIENT WITH L-2-HYDROXYGLUTARIC ACIDURIASAMURAKI, M; KOMAI, K; HASEGAWA, Y et al.Neurology. 2008, Vol 70, Num 13, pp 1051-1052, issn 0028-3878, 2 p., 1Article

Positive-ion thermospray liquid chromatography-mass spectrometry : detection of organic aciduriasBUCHANAN, D. N; MUENZER, J; THOENE, J. G et al.Journal of chromatography. Biomedical applications. 1990, Vol 534, pp 1-11, issn 0378-4347Article

Dismorfias faciales asociadas a aciduria cetoglutárica = Facial dysmorphism associated with ketoglutaric acidDELGADO LUENGO, W; FLEITAS CABELLO, H; SOLIS ANEZ, E et al.Anales de pediatria (2003. Ed. impresa). 2011, Vol 74, Num 3, pp 204-206, issn 1695-4033, 3 p.Article

Allogeneic bone marrow rransplantation in mevalonic aciduriaNEVEN, Bénédicte; VALAYANNOPOULOS, Vassili; DE LONLAY, Pascale et al.The New England journal of medicine. 2007, Vol 356, Num 26, pp 2700-2703, issn 0028-4793, 4 p.Article

Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With MyopathyWASANT, Pornswan; KUPTANON, Chulaluck; VATTANAVICHARN, Nithiwat et al.Pediatric neurology. 2010, Vol 43, Num 4, pp 279-282, issn 0887-8994, 4 p.Article

Increased hepatic mitochondrial capacity in rats with hydroxy-cobalamin[c-lactam]-induced methylmalonic aciduriaKRAHENBUHL, S; RAY, D. B; STABLER, S. P et al.The Journal of clinical investigation. 1990, Vol 86, Num 6, pp 2054-2061, issn 0021-9738Article

Methylmalonic and propionic aciduriaDEODATO, Federica; BOENZI, Sara; SANTORELLI, Filippo M et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2006, Vol 142, Num 2, pp 104-112, issn 1552-4868, 9 p.Article

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10SHERMAN, Eric A; STRAUSS, Kevin A; TORTORELLI, Silvia et al.American journal of human genetics. 2008, Vol 83, Num 5, pp 604-609, issn 0002-9297, 6 p.Article

A propos des manifestations aiguës des aciduries organiques hypocétotiques constitutionnelles = About attack in inborn, hypocetotic, organic aciduriaGUIBAUD, P.Pédiatrie (Marseille). 1993, Vol 48, Num 5, pp 361-363, issn 0031-4021Article

L-carnitine treatment in glutaric aciduria type ISECCOMBE, D. W; JAMES, L; BOOTH, F et al.Neurology. 1986, Vol 36, Num 2, pp 264-267, issn 0028-3878Article

L-2-Hydroxyglutaric aciduria, a disorder of metabolite repairVAN SCHAFTINGEN, E; RZEM, R; VEIGA-DA-CUNHA, M et al.Journal of inherited metabolic disease. 2009, Vol 32, Num 2, pp 135-142, issn 0141-8955, 8 p.Conference Paper

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1TOPCU, Meral; JOBARD, Florence; FISCHER, Judith et al.Human molecular genetics (Print). 2004, Vol 13, Num 22, pp 2803-2811, issn 0964-6906, 9 p.Article

A new case of C6―C14 dicarboxylic aciduria with favourable evolutionRIUDOR, E; RIBES, A; BORONAT, M et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 297-299, issn 0141-8955, suppl. 2Conference Paper

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut- , cblA, cblB)HÖRSTER, Friederike; BAUMGARTNER, Matthias R; VIARDOT, Caroline et al.Pediatric research. 2007, Vol 62, Num 2, pp 225-230, issn 0031-3998, 6 p.Article

Endothelial effects of 3-hydroxyglutaric acid : Implications for glutaric aciduria type IMÜHLHAUSEN, Chris; OTT, Nicola; CHALAJOUR, Fariba et al.Pediatric research. 2006, Vol 59, Num 2, pp 196-202, issn 0031-3998, 7 p.Article

Glutaric aciduria type 1: Proton magnetic resonance spectroscopy findingsKURUL, Semra; CAKMAKCI, Handan; DIRIK, Eray et al.Pediatric neurology. 2004, Vol 31, Num 3, pp 228-231, issn 0887-8994, 4 p.Article

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduriaMITCHELL, G. A; WATKINS, D; MELANCON, S. B et al.The Journal of pediatrics. 1986, Vol 108, Num 3, pp 410-415, issn 0022-3476Article

The effect of pyridoxine on oxalate dynamics in three cases of primary hyperoxaluria (with glycollic aciduria)WATTS, R. W. E; VEALL, N; PURKISS, P et al.Clinical science (1979). 1985, Vol 69, Num 1, pp 87-90, issn 0143-5221Article

Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic aciduriasILES, R. A; HIND, A. J; CHALMERS, R. A et al.Clinical chemistry (Baltimore, Md.). 1985, Vol 31, Num 11, pp 1795-1801, issn 0009-9147Article

Progress in understanding 2-hydroxyglutaric aciduriasKRANENDIJK, Martijn; STRUYS, Eduard A; SALOMONS, Gajja S et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 4, pp 571-587, issn 0141-8955, 17 p.Article

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