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3. Possible explanation for hyperglycinaemia in propionic acidaemia and methylmalonic acidaemia: propionate and methylmalonate inhibit liver and brain mitochondrial clycine transport. Ugarte M; Lopez-Lahoya J; Garcia ML; Benavides J; Valdivieso F J Inherit Metab Dis; 1980; 2(4):93-9. PubMed ID: 6796767 [TBL] [Abstract][Full Text] [Related]
4. The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'. Scholl-Bürgi S; Korman SH; Applegarth DA; Karall D; Lillquist Y; Heinz-Erian P; Davidson AG; Haberlandt E; Sass JO J Inherit Metab Dis; 2008 Jun; 31(3):395-8. PubMed ID: 18392751 [TBL] [Abstract][Full Text] [Related]
5. Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism. Baumgartner ER; Bachmann C; Brechbühler T; Wick H Pediatr Res; 1975 Jul; 9(7):559-64. PubMed ID: 240144 [TBL] [Abstract][Full Text] [Related]
6. The occurrence of beta-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidemia. Stokke O; Jellum E; Eldjarn L; Schnitler R Clin Chim Acta; 1973 May; 45(4):391-401. PubMed ID: 4730209 [No Abstract] [Full Text] [Related]
7. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia. Duran M; Bruinvis L; Ketting D; Kamerling JP; Wadman SK; Schutgens RB Biomed Mass Spectrom; 1982 Jan; 9(1):1-5. PubMed ID: 7059658 [TBL] [Abstract][Full Text] [Related]
8. Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia. Kakinuma H; Ogura N; Ohtake A; Takayanagi M; Nakajima H; Kondo H; Terada H; Okuda K; Nomoto Y J Inherit Metab Dis; 1985; 8(3):151-2. PubMed ID: 2879965 [No Abstract] [Full Text] [Related]
9. Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy. Iles RA; Chalmers RA; Hind AJ Clin Chim Acta; 1986 Dec; 161(2):173-89. PubMed ID: 3802528 [TBL] [Abstract][Full Text] [Related]
10. The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. Ierardi-Curto L; Kaplan P; Saitta S; Mazur A; Berry GT J Inherit Metab Dis; 2000 Feb; 23(1):85-6. PubMed ID: 10682312 [No Abstract] [Full Text] [Related]
11. Propionic acidaemia. First case in the Finnish population. von Wendt L; Similä S; Ruostesuo J; Puukka M; Ruokonen A Ann Clin Res; 1983; 15(5-6):194-6. PubMed ID: 6667016 [TBL] [Abstract][Full Text] [Related]
12. Propionic acid, an artefact which can leave methylmalonic acidemia undiscovered. Duran M; Ketting D; Wadman SK; Trijbels JM; Bakkeren JA; Waelkens JJ Clin Chim Acta; 1973 Dec; 49(2):177-9. PubMed ID: 4772656 [No Abstract] [Full Text] [Related]
13. [An electroencephalographic study of disorders of amino-acid metabolism during the first days of life (author's transl)]. Mises J; Moussalli F; Plouin P; Saudubray JM Rev Electroencephalogr Neurophysiol Clin; 1977; 7(3):371-7. PubMed ID: 928904 [TBL] [Abstract][Full Text] [Related]
14. Hyperglycinemia: a defect in glycine cleavage reaction. Tada K; Narisawa K; Yoshida T; Konno T; Yokoyama Y Tohoku J Exp Med; 1969 Jul; 98(3):289-96. PubMed ID: 5307488 [No Abstract] [Full Text] [Related]
15. Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. Cathelineau L; Briand P; Ogier H; Charpentier C; Coude FX; Saudubray JM J Pediatr; 1981 Aug; 99(2):279-80. PubMed ID: 7252694 [No Abstract] [Full Text] [Related]
16. Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity. Hayasaka K; Metoki K; Satoh T; Narisawa K; Tada K; Kawakami T; Matsuo N; Aoki T Tohoku J Exp Med; 1982 Jul; 137(3):329-34. PubMed ID: 6287671 [TBL] [Abstract][Full Text] [Related]
17. [Hyperglycinemia in clinical-laboratory practice]. Ciani F; Pasquini E; Ciardetti A; Donati MA; Zammarchi E Pediatr Med Chir; 1997; 19(2):109-12. PubMed ID: 9312744 [TBL] [Abstract][Full Text] [Related]
18. In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia. Kølvraa S; Gregersen N; Christensen E J Inherit Metab Dis; 1984; 7(2):49-52. PubMed ID: 6434823 [TBL] [Abstract][Full Text] [Related]
19. Absence of acidosis in the initial presentation of propionic acidaemia. Walter JH; Wraith JE; Cleary MA Arch Dis Child Fetal Neonatal Ed; 1995 May; 72(3):F197-9. PubMed ID: 7796239 [TBL] [Abstract][Full Text] [Related]
20. An evaluation of protein requirements in methylmalonic acidaemia. Ney D; Bay C; Saudubray JM; Kelts DG; Kulovich S; Sweetman L; Nyhan WL J Inherit Metab Dis; 1985; 8(3):132-42. PubMed ID: 3939589 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]