Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Aciduria")

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 1002

  • Page / 41
Export

Selection :

  • and

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaSLOAN, Jennifer L; JOHNSTON, Jennifer J; SAPP, Julie C et al.Nature genetics. 2011, Vol 43, Num 9, pp 883-886, issn 1061-4036, 4 p.Article

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

L-2-hydroxyglutaric aciduria : Clinical, neuroimaging, and neuropathological findingsSEIJO-MARTINEZ, Manuel; NAVARRO, Carmen; CASTRO DEL RIO, Maria et al.Archives of neurology (Chicago). 2005, Vol 62, Num 4, pp 666-670, issn 0003-9942, 5 p.Article

Cardiomyopathie hypertrophique et encéphalopathie néonatale associées à une acidurie 3-méthylglutaconique = Hypertrophic myocardiopathy and neonatal encephalopathy associated with 3-methylglutaconic aciduriaNETTER, J. C; DIVRY, P; DELISLE, B et al.Annales de pédiatrie (Paris). 1987, Vol 34, Num 9, pp 741-742, issn 0066-2097Article

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

Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literatureMARQUARD, Jan; TARIK EL SCHEICH; KLEE, Dirk et al.European journal of pediatrics. 2011, Vol 170, Num 2, pp 241-245, issn 0340-6199, 5 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

Enzymologic studies on patients with methylmalonic aciduria : basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patientCHALMERS, R. A; BAIN, M. D; MISTRY, J et al.Pediatric research. 1991, Vol 30, Num 6, pp 560-563, issn 0031-3998Conference Paper

Octenylsuccinic aciduria in children fed protein-hydrolysate formulas containing modified cornstarchKELLEY, R. I.Pediatric research. 1991, Vol 30, Num 6, pp 564-569, issn 0031-3998Conference Paper

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

Simplified method for the chemical diagnosis of organic aciduria using GC/MSNAKAGAWA, Katsuhiro; KAWANA, Shuichi; HASEGAWA, Yuki et al.Journal of chromatography. B. 2010, Vol 878, Num 13-14, pp 942-948, issn 1570-0232, 7 p.Article

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

The 3-methylglutaconic acidurias: what's new?WORTMANN, Saskia B; KLUIJTMANS, Leo A; ENGELKE, Udo F. H et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 1, pp 13-22, issn 0141-8955, 10 p.Article

Neuropathology of 3-Hydroxyisobutyric Aciduria, an Autopsy Case ReportXIANYUAN SONG; ANDERSON, Virginia; GUZMAN, Miguel et al.Canadian journal of neurological sciences. 2009, Vol 36, Num 4, pp 483-486, issn 0317-1671, 4 p.Article

Mevalonic aciduria : Report of two casesBRETON MARTINEZ, J. R; CANOVAS MARTINEZ, A; CASAIIA PEREZ, S et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 5, pp 829-829, issn 0141-8955, 1 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

  • Page / 41