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Results 1 to 25 of 703

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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

The routine investigation of urinary organic acids in selected paediatric patients: results over a 2 1/2-year periodBENNETT, M. J; GREEN, A; POLLITT, R. J et al.Annals of clinical biochemistry. 1984, Vol 21, Num 1, pp 45-50, issn 0004-5632Article

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

Glutaric aciduria type 1: biochemical investigations and postmortem findingsBENNETT, M. J; MARLOW, N; POLLITT, R. J et al.European journal of pediatrics. 1986, Vol 145, Num 5, pp 403-405, issn 0340-6199Article

Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduriaKOU-YI TSERNG; SHIOW-JEN JIN; KERR, D. S et al.Metabolism, clinical and experimental. 1991, Vol 40, Num 7, pp 676-682, issn 0026-0495Article

Spectre clinique des déficits en mévalonate kinaseGUILLAUME, Séverine.MTP. Médecine thérapeutique pédiatrie. 2008, Vol 11, Num 3, pp 172-179, issn 1286-5494, 8 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 in two infantsHAGBERG, B; HJALMARSON, O; LINDSTEDT, S et al.Clinica chimica acta. 1983, Vol 134, Num 1-2, pp 59-67, issn 0009-8981Article

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

ESSAI DE DIAGNOSTIC ANTE-NATAL DE L'ACIDURIE ARGININO-SUCCINIQUEDHONDT JL; FARRIAUX JP; POLLITT RJ et al.1976; ANN. GENET.; FR.; DA. 1976; VOL. 19; NO 1; PP. 23-27; ABS. ANGL.; BIBL. 19 REF.Article

SURVIVAL OF INFANT WITH ARGININOSUCCINIC ACIDURIA TO 3 MONTHS OF AGE. = SURVIE JUSQU'A L'AGE DE 3 MOIS D'UN NOURRISSON ATTEINT D'ACIDURIE ARGININOSUCCINIQUEFARRIAUX JP; PIERAERT C; FONTAINE G et al.1975; J. PEDIATR.; U.S.A.; DA. 1975; VOL. 86; NO 4; PP. 639Article

DICARBOXYLIC ACIDURIA SURING KETOTIC PHASES IN VARIOUS TYPES OF GLYCOGEN STORAGE DISEASEPETTERSEN JE; WINSNES A.1981; ACTA PAEDIATR. SCAND.; ISSN 0001-656X; SWE; DA. 1981; VOL. 70; NO 3; PP. 309-313; BIBL. 15 REF.Article

INTELLECT AND SERUM URIC ACID: AN OPTIMAL CONCENTRATION OF SERUM URATE FOR HUMAN LEARNING. = INTELLIGENCE ET ACIDE URIQUE SERIQUE: UNE CONCENTRATION OPTIMALE EN URATE SERIQUE POUR L'APPRENTISSAGE CHEZ L'HOMME.STEVENS HA; CROPLEY AJ; BLATTLER DP et al.1975; SOC. BIOL.; U.S.A.; DA. 1975; VOL. 22; NO 3; PP. 229-234; BIBL. 19 REF.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

3-methulglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl CoA hydratase deficiencyLEHNERT, W; SCHARF, J; WENDEL, U et al.European journal of pediatrics. 1985, Vol 143, Num 4, pp 301-303, issn 0340-6199Article

Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduriaGIBSON, K. M; SWEETMAN, L; NYHAN, W. L et al.European journal of pediatrics. 1984, Vol 142, Num 4, pp 257-259, issn 0340-6199Article

D-LACTIC ACIDURIA, AN INBORN ERROR OF METABOLISM.DURAN M; VAN BIERVLIET JPGM; KAMERLING JP et al.1977; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1977; VOL. 74; NO 53; PP. 297-300; BIBL. 7 REF.Article

METHYLMALONIC ACIDURIA WITHOUT VITAMIN B12 DEFICIENCY IN AN ADULT SIBSHIP.GIORGIO AJ; TROWBRIDGE M; BOONE AW et al.1976; NEW ENGL. J. MED.; U.S.A.; DA. 1976; VOL. 295; NO 6; PP. 310-313; BIBL. 23 REF.Article

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