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44. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Mohsen AW; Anderson BD; Volchenboum SL; Battaile KP; Tiffany K; Roberts D; Kim JJ; Vockley J Biochemistry; 1998 Jul; 37(28):10325-35. PubMed ID: 9665741 [TBL] [Abstract][Full Text] [Related]
45. Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia. Rhead WJ; Tanaka K Proc Natl Acad Sci U S A; 1980 Jan; 77(1):580-3. PubMed ID: 6928646 [TBL] [Abstract][Full Text] [Related]
46. Megalencephaly in the neonatal period as the initial manifestation of glutaric aciduria type I. Iafolla AK; Kahler SG J Pediatr; 1989 Jun; 114(6):1004-6. PubMed ID: 2627209 [No Abstract] [Full Text] [Related]
47. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Ensenauer R; Vockley J; Willard JM; Huey JC; Sass JO; Edland SD; Burton BK; Berry SA; Santer R; Grünert S; Koch HG; Marquardt I; Rinaldo P; Hahn S; Matern D Am J Hum Genet; 2004 Dec; 75(6):1136-42. PubMed ID: 15486829 [TBL] [Abstract][Full Text] [Related]
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49. [Macrocephaly and dystonic cerebral palsy in a child with type I glutaric aciduria]. Plöchl E; Christensen E; Colombo JP; Weiss-Wichert P; Wenger E Padiatr Padol; 1991; 26(2):97-101. PubMed ID: 1945471 [TBL] [Abstract][Full Text] [Related]
50. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Kyllerman M; Skjeldal OH; Lundberg M; Holme I; Jellum E; von Döbeln U; Fossen A; Carlsson G Mov Disord; 1994 Jan; 9(1):22-30. PubMed ID: 8139602 [TBL] [Abstract][Full Text] [Related]
51. Eight novel mutations detected from eight Chinese patients with isovaleric acidemia. Li Y; Shen M; Jin Y; Liu Y; Kang L; He R; Song J; Luo L; Yang Y Clin Chim Acta; 2019 Nov; 498():116-121. PubMed ID: 31442447 [TBL] [Abstract][Full Text] [Related]
52. Isovaleric acidemia: use of glycine therapy in neonates. Cohn RM; Yudkoff M; Rothman R; Segal S N Engl J Med; 1978 Nov; 299(18):996-9. PubMed ID: 692626 [No Abstract] [Full Text] [Related]
53. [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine]. Lund AB; Lund AM Ugeskr Laeger; 2011 Apr; 173(15):1121-3. PubMed ID: 21672462 [TBL] [Abstract][Full Text] [Related]
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55. Aspects of Newborn Screening in Isovaleric Acidemia. Schlune A; Riederer A; Mayatepek E; Ensenauer R Int J Neonatal Screen; 2018 Mar; 4(1):7. PubMed ID: 33072933 [TBL] [Abstract][Full Text] [Related]
56. [Isovaleric acidemia. Study and treatment in 3 brothers]. Saudubray JM; Sorin M; Depondt E; Herouin C; Charpentier C; Pousset JL Arch Fr Pediatr; 1976 Oct; 33(8):795-808. PubMed ID: 985038 [TBL] [Abstract][Full Text] [Related]
57. Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts. Ikeda Y; Keese SM; Tanaka K Proc Natl Acad Sci U S A; 1985 Oct; 82(20):7081-5. PubMed ID: 3863140 [TBL] [Abstract][Full Text] [Related]
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