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3. Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient. Zapater N; Pié J; Lloberas J; Rolland MO; Leroux B; Vidailhet M; Divry P; Hegardt FG; Casals N Arch Biochem Biophys; 1998 Oct; 358(2):197-203. PubMed ID: 9784232 [TBL] [Abstract][Full Text] [Related]
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5. GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Shinka T; Kuhara T; Inoue Y; Matsumoto M; Matsumoto I; Nakamura H; Irimichi H; Hasumi K; Endo A Acta Paediatr Jpn; 1992 Apr; 34(2):157-65. PubMed ID: 1377861 [TBL] [Abstract][Full Text] [Related]
6. [3-hydroxy-3-methylglutaraturia. Clinical aspects, follow-up and therapy in a young child]. Plöchl E; Bachmann C; Colombo JP; Gibson KM Klin Padiatr; 1990; 202(2):76-80. PubMed ID: 1691326 [TBL] [Abstract][Full Text] [Related]
8. 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. Funghini S; Pasquini E; Cappellini M; Donati MA; Morrone A; Fonda C; Zammarchi E Mol Genet Metab; 2001 Jul; 73(3):268-75. PubMed ID: 11461194 [TBL] [Abstract][Full Text] [Related]
10. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method. Wanders RJ; Schutgens RB; Zoeters PH Clin Chim Acta; 1988 Jan; 171(1):95-101. PubMed ID: 2450702 [TBL] [Abstract][Full Text] [Related]
11. Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method. Wanders RJ; Zoeters PH; Schutgens RB; de Klerk JB; Duran M; Wadman SK; van Sprang FJ; Hemmes AM; Voorbrood BS Clin Chim Acta; 1990 Aug; 189(3):327-34. PubMed ID: 2225463 [TBL] [Abstract][Full Text] [Related]
12. [Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency]. Vilaseca Busca MA; Ribes Rubio A; Briones Godino P; Cusi Sánchez V; Baraíbar Castelló R; Gairi Taull JM An Esp Pediatr; 1990 Feb; 32(2):149-53. PubMed ID: 1971743 [TBL] [Abstract][Full Text] [Related]
13. 3-Hydroxy-3-methylglutaric aciduria: a possible pitfall in diagnosis. Mills GA; Hill MA; Buchanan R; Corina DL; Walker V Clin Chim Acta; 1991 Dec; 204(1-3):131-6. PubMed ID: 1726424 [No Abstract] [Full Text] [Related]
14. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Santarelli F; Cassanello M; Enea A; Poma F; D'Onofrio V; Guala G; Garrone G; Puccinelli P; Caruso U; Porta F; Spada M Ital J Pediatr; 2013 May; 39():33. PubMed ID: 23705938 [TBL] [Abstract][Full Text] [Related]
15. [3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report]. Casella EB; Martins FR; Miura IK; Vieira MA; Porta G Arq Neuropsiquiatr; 1998 Sep; 56(3A):472-5. PubMed ID: 9754431 [TBL] [Abstract][Full Text] [Related]
16. 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine. Duran M; Schutgens RB; Ketel A; Heymans H; Bertssen MW; Ketting D; Wadman SK J Pediatr; 1979 Dec; 95(6):1004-7. PubMed ID: 91680 [No Abstract] [Full Text] [Related]