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SCREENING TESTS FOR ARGININOSUCCINIC ACIDURIA, OROTIC ACIDURIA, AND OTHER INHERITED ENZYME DEFICIENCIES USING DRIED BLOOD SPECIMENS = TESTS DE DEPISTAGE DE L'ACIDURIE ARGINOSUCCINIQUE, DE L'ACIDURIE OROTIQUE ET AUTRES DEFICITS ENZYMATIQUES HEREDITAIRES, SUR DES SPECIMENS DE SANG SECHEMURPHEY WH; PATCHEN L; GUTHRIE R et al.1972; BIOCHEM. GENET.; U.S.A.; DA. 1972; VOL. 6; NO 1; PP. 51-59; BIBL. 16REF.Serial Issue

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

Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defectDIVRY, P; DAVID, M; GREGERSEN, N et al.Acta paediatrica scandinavica. 1983, Vol 72, Num 6, pp 943-949, issn 0001-656XArticle

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

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

3-Hydroxy-3-methylglutaric aciduriaGREENE, C. L; CANN, H. M; ROBINSON, B. H et al.Journal of neurogenetics. 1984, Vol 1, Num 2, pp 165-173, issn 0167-7063Article

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

Glutaric aciduria type I : a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, PennsylvaniaMORTON, D. H; BENNETT, M. J; SEARGEANT, L. E et al.American journal of medical genetics. 1991, Vol 41, Num 1, pp 89-95, issn 0148-7299Article

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

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

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

Characterization of new diagnostic acylcarnitines in patients with β-ketothiolase deficiency and glutaric aciduria type I using mass spectrometryMILLINGTON, D. S; ROE, C. R; MALTBY, D. A et al.Biomedical & environmental mass spectrometry. 1987, Vol 14, Num 12, pp 711-716, issn 0887-6134Article

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

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