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24. A fatal case of 2-keto-, 2-hydroxy- and 2-aminoadipic aciduria: relation of organic aciduria to phenotype? Jakobs C; de Grauw AJ J Inherit Metab Dis; 1992; 15(2):279-80. PubMed ID: 1527995 [No Abstract] [Full Text] [Related]
25. Severe infantile hypotonia with ethylmalonic aciduria: case report. Okuyaz C; Ezgü FS; Biberoglu G; Zeviani M; Tiranti V; Yilgör E J Child Neurol; 2008 Jun; 23(6):703-5. PubMed ID: 18539996 [TBL] [Abstract][Full Text] [Related]
26. Glutaric aciduria type II: a case report. Domizio S; Romanelli A; Brindisino P; Puglielli C; Conte E; Domizio R; Sgarrella MC; Sabatino G Int J Immunopathol Pharmacol; 2005; 18(4):805-8. PubMed ID: 16388731 [TBL] [Abstract][Full Text] [Related]
27. The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation. Bennett MJ Ann Clin Biochem; 1990 Nov; 27 ( Pt 6)():519-31. PubMed ID: 2080855 [No Abstract] [Full Text] [Related]
29. Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism. Wendel U Pediatr Res; 1989 Feb; 25(2):147-50. PubMed ID: 2919129 [TBL] [Abstract][Full Text] [Related]
30. Isovaleric acidemia: results of family study and dietary treatment. Levy HL; Erickson AM; Lott IT; Kurtz DJ Pediatrics; 1973 Jul; 52(1):83-94. PubMed ID: 4125080 [No Abstract] [Full Text] [Related]
31. [Clinical protocols concerned with disorders of fatty acid beta oxidation]. Kania M Przegl Lek; 1994; 51(1):25-8. PubMed ID: 8208992 [TBL] [Abstract][Full Text] [Related]
33. Idiopathic hyperlipidemia; search for a metabolic defect and its familial origin. Rozynkowa D; Paluszak J; Borowczyk T; Rakowski W Pol Med J; 1967; 6(2):429-35. PubMed ID: 6030652 [No Abstract] [Full Text] [Related]
34. Screening for methylmalonic aciduria in Alberta: a voluntary program with particular significance for the Hutterite Brethren. Fowlow SB; Holmes TM; Morgan K; Snyder FF Am J Med Genet; 1985 Nov; 22(3):513-9. PubMed ID: 2865895 [TBL] [Abstract][Full Text] [Related]
35. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency. García-Silva MT; Campos Y; Ribes A; Briones P; Cabello A; Santos Borbujo J; Arenas J; Garavaglia B J Pediatr; 1994 Nov; 125(5 Pt 1):843-4. PubMed ID: 7965445 [No Abstract] [Full Text] [Related]
36. [A case of methylmalonic acid acidosis]. Pedersen VF Nord Med; 1971; 86(49):1495. PubMed ID: 5137040 [No Abstract] [Full Text] [Related]
37. Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase. Christensen E; Kølvraa S; Gregersen N Pediatr Res; 1984 Jul; 18(7):663-7. PubMed ID: 6433313 [TBL] [Abstract][Full Text] [Related]
39. Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Bonafé L; Troxler H; Kuster T; Heizmann CW; Chamoles NA; Burlina AB; Blau N Mol Genet Metab; 2000 Apr; 69(4):302-11. PubMed ID: 10870848 [TBL] [Abstract][Full Text] [Related]
40. [Encephalomyopathy due to a beta oxidation deficiency. Report of a new case]. Balestri P; Mostardini R Minerva Pediatr; 1991 Mar; 43(3):93-5. PubMed ID: 1870532 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]