83 related articles for article (PubMed ID: 11228257)
1. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.
Bouchard L; Robert MF; Vinarov D; Stanley CA; Thompson GN; Morris A; Leonard JV; Quant P; Hsu BY; Boneh A; Boukaftane Y; Ashmarina L; Wang S; Miziorko H; Mitchell GA
Pediatr Res; 2001 Mar; 49(3):326-31. PubMed ID: 11228257
[TBL] [Abstract][Full Text] [Related]
2. Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution.
Boukaftane Y; Duncan A; Wang S; Labuda D; Robert MF; Sarrazin J; Schappert K; Mitchell GA
Genomics; 1994 Oct; 23(3):552-9. PubMed ID: 7851882
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
Wolf NI; Rahman S; Clayton PT; Zschocke J
Eur J Pediatr; 2003 Apr; 162(4):279-80. PubMed ID: 12647205
[TBL] [Abstract][Full Text] [Related]
4. New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Ramos M; Menao S; Arnedo M; Puisac B; Gil-Rodríguez MC; Teresa-Rodrigo ME; Hernández-Marcos M; Pierre G; Ramaswami U; Baquero-Montoya C; Bueno G; Casale C; Hegardt FG; Gómez-Puertas P; Pié J
Eur J Med Genet; 2013 Aug; 56(8):411-5. PubMed ID: 23751782
[TBL] [Abstract][Full Text] [Related]
5. Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.
Kılıç M; Dorum S; Topak A; Yazıcı MU; Ezgu FS; Coskun T
Am J Med Genet A; 2020 Jul; 182(7):1608-1614. PubMed ID: 32259399
[TBL] [Abstract][Full Text] [Related]
6. Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency.
Morris AA; Lascelles CV; Olpin SE; Lake BD; Leonard JV; Quant PA
Pediatr Res; 1998 Sep; 44(3):392-6. PubMed ID: 9727719
[TBL] [Abstract][Full Text] [Related]
7. Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Puisac B; Marcos-Alcalde I; Hernández-Marcos M; Tobajas Morlana P; Levtova A; Schwahn BC; DeLaet C; Lace B; Gómez-Puertas P; Pié J
Int J Mol Sci; 2018 Mar; 19(4):. PubMed ID: 29597274
[TBL] [Abstract][Full Text] [Related]
8. Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.
Thompson GN; Hsu BY; Pitt JJ; Treacy E; Stanley CA
N Engl J Med; 1997 Oct; 337(17):1203-7. PubMed ID: 9337379
[No Abstract] [Full Text] [Related]
9. Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.
Liu H; Miao JK; Yu CW; Wan KX; Zhang J; Yuan ZJ; Yang J; Wang DJ; Zeng Y; Zou L
BMC Pediatr; 2019 Oct; 19(1):344. PubMed ID: 31597564
[TBL] [Abstract][Full Text] [Related]
10. A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.
Lee T; Takami Y; Yamada K; Kobayashi H; Hasegawa Y; Sasai H; Otsuka H; Takeshima Y; Fukao T
JIMD Rep; 2019 Jul; 48(1):19-25. PubMed ID: 31392109
[TBL] [Abstract][Full Text] [Related]
11. The diagnosis of mitochondrial HMG-CoA synthase deficiency.
Zschocke J; Penzien JM; Bielen R; Casals N; Aledo R; Pié J; Hoffmann GF; Hegardt FG; Mayatepek E
J Pediatr; 2002 Jun; 140(6):778-80. PubMed ID: 12072887
[TBL] [Abstract][Full Text] [Related]
12. Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
Conlon TA; Fitzsimons PE; Borovickova I; Kirby F; Murphy S; Knerr I; Crushell E
JIMD Rep; 2020 Sep; 55(1):26-31. PubMed ID: 32905056
[TBL] [Abstract][Full Text] [Related]
13. Human cytoplasmic 3-hydroxy-3-methylglutaryl coenzyme A synthase: expression, purification, and characterization of recombinant wild-type and Cys129 mutant enzymes.
Rokosz LL; Boulton DA; Butkiewicz EA; Sanyal G; Cueto MA; Lachance PA; Hermes JD
Arch Biochem Biophys; 1994 Jul; 312(1):1-13. PubMed ID: 7913309
[TBL] [Abstract][Full Text] [Related]
14. Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.
Shafqat N; Turnbull A; Zschocke J; Oppermann U; Yue WW
J Mol Biol; 2010 May; 398(4):497-506. PubMed ID: 20346956
[TBL] [Abstract][Full Text] [Related]
15. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: a control enzyme in ketogenesis.
Hegardt FG
Biochem J; 1999 Mar; 338 ( Pt 3)(Pt 3):569-82. PubMed ID: 10051425
[TBL] [Abstract][Full Text] [Related]
16. Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
He G; Yang BZ; Roe DS; Teramoto R; Aleck K; Grebe TA; Roe CR; Ding JH
Biochem Biophys Res Commun; 1999 Oct; 264(2):483-7. PubMed ID: 10529389
[TBL] [Abstract][Full Text] [Related]
17. Hormonal regulation of the mRNA encoding the ketogenic enzyme mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase in neonatal primary cultures of cortical astrocytes and meningeal fibroblasts.
Cullingford TE; Bhakoo KK; Clark JB
J Neurochem; 1998 Nov; 71(5):1804-12. PubMed ID: 9798904
[TBL] [Abstract][Full Text] [Related]
18. Genetic basis of mitochondrial HMG-CoA synthase deficiency.
Aledo R; Zschocke J; Pié J; Mir C; Fiesel S; Mayatepek E; Hoffmann GF; Casals N; Hegardt FG
Hum Genet; 2001 Jul; 109(1):19-23. PubMed ID: 11479731
[TBL] [Abstract][Full Text] [Related]
19. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase promoter contains a CREB binding site that regulates cAMP action in Caco-2 cells.
Eggers A; Caudevilla C; Asins G; Hegardt FG; Serra D
Biochem J; 2000 Jan; 345 Pt 2(Pt 2):201-6. PubMed ID: 10620495
[TBL] [Abstract][Full Text] [Related]
20. Mutations in aldosterone synthase gene of Milan hypertensive rats: phenotypic consequences.
Lloyd-MacGilp SA; Torielli L; Bechtel S; Tripodi G; Gomez-Sanchez CE; Zagato L; Bernhardt R; Kenyon CJ
Am J Physiol Endocrinol Metab; 2002 Mar; 282(3):E608-17. PubMed ID: 11832364
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]