These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts. O'Brien DP; Barshop BA; Faunt KK; Johnson GC; Gibson KM; Shelton GD J Inherit Metab Dis; 1999 Dec; 22(8):883-90. PubMed ID: 10604140 [TBL] [Abstract][Full Text] [Related]
3. Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. Gregg AR; Warman AW; Thorburn DR; O'Brien WE J Inherit Metab Dis; 1998 Jun; 21(4):382-90. PubMed ID: 9700595 [TBL] [Abstract][Full Text] [Related]
4. Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation. Colak G; Pougovkina O; Dai L; Tan M; Te Brinke H; Huang H; Cheng Z; Park J; Wan X; Liu X; Yue WW; Wanders RJ; Locasale JW; Lombard DB; de Boer VC; Zhao Y Mol Cell Proteomics; 2015 Nov; 14(11):3056-71. PubMed ID: 26320211 [TBL] [Abstract][Full Text] [Related]
5. Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family. Snanoudj S; Torre S; Sudrié-Arnaud B; Abily-Donval L; Goldenberg A; Salomons GS; Marret S; Bekri S; Tebani A Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884438 [TBL] [Abstract][Full Text] [Related]
6. A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy. Lee SH; Ko JM; Song MK; Song J; Park KS Mol Genet Genomic Med; 2020 Sep; 8(9):e1379. PubMed ID: 32602666 [TBL] [Abstract][Full Text] [Related]
7. Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. Ozand PT; Rashed M; Millington DS; Sakati N; Hazzaa S; Rahbeeni Z; al Odaib A; Youssef N; Mazrou A; Gascon GG Brain Dev; 1994 Nov; 16 Suppl():12-22. PubMed ID: 7726376 [TBL] [Abstract][Full Text] [Related]
8. A new case of malonyl-CoA decarboxylase deficiency with mild clinical features. Liu H; Tan D; Han L; Ye J; Qiu W; Gu X; Zhang H Am J Med Genet A; 2016 May; 170A(5):1347-51. PubMed ID: 26858006 [TBL] [Abstract][Full Text] [Related]
9. Glutaric aciduria type I presenting with hypoglycaemia. Dunger DB; Snodgrass GJ J Inherit Metab Dis; 1984; 7(3):122-4. PubMed ID: 6438395 [TBL] [Abstract][Full Text] [Related]
10. Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life. Pöge AP; Autschbach F; Korall H; Trefz FK; Mayatepek E Acta Paediatr; 1997 Oct; 86(10):1144-7. PubMed ID: 9350903 [TBL] [Abstract][Full Text] [Related]
11. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Merinero B; Pérez-Cerdá C; Font LM; Garcia MJ; Aparicio M; Lorenzo G; Martinez Pardo M; Garzo C; Martinez-Bermejo A; Pascual Castroviejo I Neuropediatrics; 1995 Oct; 26(5):238-42. PubMed ID: 8552212 [TBL] [Abstract][Full Text] [Related]
13. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. Gao J; Waber L; Bennett MJ; Gibson KM; Cohen JC J Lipid Res; 1999 Jan; 40(1):178-82. PubMed ID: 9869665 [TBL] [Abstract][Full Text] [Related]
14. Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. Kölker S; Ramaekers VT; Zschocke J; Hoffmann GF J Pediatr; 2001 Feb; 138(2):277-9. PubMed ID: 11174631 [TBL] [Abstract][Full Text] [Related]
15. Glutaric aciduria mediated by gut bacteria. Wendel U; Bakkeren J; de Jong J; Bongaerts G J Inherit Metab Dis; 1995; 18(3):358-9. PubMed ID: 7474906 [No Abstract] [Full Text] [Related]
17. Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. Mühlhausen C; Christensen E; Schwartz M; Muschol N; Ullrich K; Lukacs Z J Inherit Metab Dis; 2003; 26(7):713-4. PubMed ID: 14707522 [TBL] [Abstract][Full Text] [Related]
18. Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II. Christensen E J Inherit Metab Dis; 1984; 7 Suppl 2():103-4. PubMed ID: 6434855 [No Abstract] [Full Text] [Related]
19. Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I. Hauser SE; Boneh A Neuropediatrics; 1999 Feb; 30(1):51-2. PubMed ID: 10222465 [No Abstract] [Full Text] [Related]
20. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II. Gregersen N; Kølvraa S; Rasmussen K; Christensen E; Brandt NJ; Ebbesen F; Hansen FH J Inherit Metab Dis; 1980; 3(3):67-72. PubMed ID: 6158623 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]