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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1994 | 1 |
1995 | 1 |
1997 | 1 |
1998 | 1 |
2001 | 2 |
2003 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 414399
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Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
Eur J Pediatr. 2003 Apr;162(4):279-80. doi: 10.1007/s00431-002-1110-x. Epub 2003 Feb 11.
Eur J Pediatr. 2003.
PMID: 12647205
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.
Aledo R, et al.
Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554.
Hum Genet. 2001.
PMID: 11479731
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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.
Bouchard L, et al.
Pediatr Res. 2001 Mar;49(3):326-31. doi: 10.1203/00006450-200103000-00005.
Pediatr Res. 2001.
PMID: 11228257
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Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency.
Morris AA, Lascelles CV, Olpin SE, Lake BD, Leonard JV, Quant PA.
Morris AA, et al.
Pediatr Res. 1998 Sep;44(3):392-6. doi: 10.1203/00006450-199809000-00021.
Pediatr Res. 1998.
PMID: 9727719
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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.
Thompson GN, et al.
N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704.
N Engl J Med. 1997.
PMID: 9337379
Free article.
No abstract available.
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Molecular cloning and tissue expression of human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.
Mascaró C, Buesa C, Ortiz JA, Haro D, Hegardt FG.
Mascaró C, et al.
Arch Biochem Biophys. 1995 Mar 10;317(2):385-90. doi: 10.1006/abbi.1995.1178.
Arch Biochem Biophys. 1995.
PMID: 7893153
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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.
Boukaftane Y, et al.
Genomics. 1994 Oct;23(3):552-9. doi: 10.1006/geno.1994.1542.
Genomics. 1994.
PMID: 7851882
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