220 related articles for article (PubMed ID: 11102558)
1. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
Zschocke J; Ruiter JP; Brand J; Lindner M; Hoffmann GF; Wanders RJ; Mayatepek E
Pediatr Res; 2000 Dec; 48(6):852-5. PubMed ID: 11102558
[TBL] [Abstract][Full Text] [Related]
2. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Perez-Cerda C; García-Villoria J; Ofman R; Sala PR; Merinero B; Ramos J; García-Silva MT; Beseler B; Dalmau J; Wanders RJ; Ugarte M; Ribes A
Pediatr Res; 2005 Sep; 58(3):488-91. PubMed ID: 16148061
[TBL] [Abstract][Full Text] [Related]
3. Inborn errors of isoleucine degradation: a review.
Korman SH
Mol Genet Metab; 2006 Dec; 89(4):289-99. PubMed ID: 16950638
[TBL] [Abstract][Full Text] [Related]
4. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
Ensenauer R; Niederhoff H; Ruiter JP; Wanders RJ; Schwab KO; Brandis M; Lehnert W
Ann Neurol; 2002 May; 51(5):656-9. PubMed ID: 12112118
[TBL] [Abstract][Full Text] [Related]
5. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Poll-The BT; Wanders RJ; Ruiter JP; Ofman R; Majoie CB; Barth PG; Duran M
Mol Genet Metab; 2004 Apr; 81(4):295-9. PubMed ID: 15059617
[TBL] [Abstract][Full Text] [Related]
6. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.
Olpin SE; Pollitt RJ; McMenamin J; Manning NJ; Besley G; Ruiter JP; Wanders RJ
J Inherit Metab Dis; 2002 Oct; 25(6):477-82. PubMed ID: 12555940
[TBL] [Abstract][Full Text] [Related]
7. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
Sass JO; Forstner R; Sperl W
Brain Dev; 2004 Jan; 26(1):12-4. PubMed ID: 14729408
[TBL] [Abstract][Full Text] [Related]
8. Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.
Luís PB; Ruiter JP; Ofman R; Ijlst L; Moedas M; Diogo L; Garcia P; de Almeida IT; Duran M; Wanders RJ; Silva MF
Biochem Pharmacol; 2011 Dec; 82(11):1740-6. PubMed ID: 21843514
[TBL] [Abstract][Full Text] [Related]
9. Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
Ngu LH; Zabedah MY; Shanti B; Teh SH
Malays J Pathol; 2008 Dec; 30(2):109-14. PubMed ID: 19291920
[TBL] [Abstract][Full Text] [Related]
10. Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Cazorla MR; Verdú A; Pérez-Cerdá C; Ribes A
Pediatr Neurol; 2007 Apr; 36(4):264-7. PubMed ID: 17437913
[TBL] [Abstract][Full Text] [Related]
11. Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
Rosa RB; Schuck PF; de Assis DR; Latini A; Dalcin KB; Ribeiro CA; da C Ferreira G; Maria RC; Leipnitz G; Perry ML; Filho CS; Wyse AT; Wannmacher CM; Wajner M
J Inherit Metab Dis; 2005; 28(4):501-15. PubMed ID: 15902553
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
Søvik O
J Inherit Metab Dis; 1993; 16(1):46-54. PubMed ID: 8487503
[TBL] [Abstract][Full Text] [Related]
13. Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
García-Villoria J; Navarro-Sastre A; Fons C; Pérez-Cerdá C; Baldellou A; Fuentes-Castelló MA; González I; Hernández-Gonzalez A; Fernández C; Campistol J; Delpiccolo C; Cortés N; Messeguer A; Briones P; Ribes A
Clin Biochem; 2009 Jan; 42(1-2):27-33. PubMed ID: 18996107
[TBL] [Abstract][Full Text] [Related]
14. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency.
Stanley CA
Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304
[TBL] [Abstract][Full Text] [Related]
15. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC; Schmitt RN; Schlatter SM; Gemperle-Britschgi C; Balcı MC; Berg V; Çoker M; Das AM; Demirkol M; Derks TGJ; Gökçay G; Uçar SK; Konstantopoulou V; Christoph Korenke G; Lotz-Havla AS; Schlune A; Staufner C; Tran C; Visser G; Schwab KO; Fukao T; Sass JO
Mol Genet Metab; 2017 Sep; 122(1-2):67-75. PubMed ID: 28689740
[TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
Su L; Li X; Lin R; Sheng H; Feng Z; Liu L
Metab Brain Dis; 2017 Dec; 32(6):2063-2071. PubMed ID: 28875337
[TBL] [Abstract][Full Text] [Related]
17. [A case of beta-ketothiolase deficiency].
Zhan JY; Liang L; Dong GP
Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):703-4. PubMed ID: 17217670
[No Abstract] [Full Text] [Related]
18. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
Akella RR; Aoyama Y; Mori C; Lingappa L; Cariappa R; Fukao T
Brain Dev; 2014 Jun; 36(6):537-40. PubMed ID: 23958592
[TBL] [Abstract][Full Text] [Related]
19. Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
Tein I; Sloane AE; Donner EJ; Lehotay DC; Millington DS; Kelley RI
Pediatr Neurol; 1995 Jan; 12(1):21-30. PubMed ID: 7748356
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
Gregersen N; Andresen BS; Corydon MJ; Corydon TJ; Olsen RK; Bolund L; Bross P
Hum Mutat; 2001 Sep; 18(3):169-89. PubMed ID: 11524729
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]