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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.EJ

Abstract

We report two additional patients in whom hypoketotic hypoglycaemia was caused by a deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMCM); two novel mutations were identified (V54M and Y167C), one of which directly involves the catalytic site of the enzyme.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Letter
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12647205

Citation

Wolf, Nicole I., et al. "Mitochondrial HMG-CoA Synthase Deficiency: Identification of Two Further Patients Carrying Two Novel Mutations." European Journal of Pediatrics, vol. 162, no. 4, 2003, pp. 279-80.
Wolf NI, Rahman S, Clayton PT, et al. Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. Eur J Pediatr. 2003;162(4):279-80.
Wolf, N. I., Rahman, S., Clayton, P. T., & Zschocke, J. (2003). Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. European Journal of Pediatrics, 162(4), 279-80.
Wolf NI, et al. Mitochondrial HMG-CoA Synthase Deficiency: Identification of Two Further Patients Carrying Two Novel Mutations. Eur J Pediatr. 2003;162(4):279-80. PubMed PMID: 12647205.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. AU - Wolf,Nicole I, AU - Rahman,Shamima, AU - Clayton,Peter T, AU - Zschocke,Johannes, Y1 - 2003/02/11/ PY - 2002/08/28/received PY - 2002/10/03/accepted PY - 2003/3/21/pubmed PY - 2003/8/6/medline PY - 2003/3/21/entrez SP - 279 EP - 80 JF - European journal of pediatrics JO - Eur J Pediatr VL - 162 IS - 4 N2 - We report two additional patients in whom hypoketotic hypoglycaemia was caused by a deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMCM); two novel mutations were identified (V54M and Y167C), one of which directly involves the catalytic site of the enzyme. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/12647205/Mitochondrial_HMG_CoA_synthase_deficiency:_identification_of_two_further_patients_carrying_two_novel_mutations_ L2 - https://dx.doi.org/10.1007/s00431-002-1110-x DB - PRIME DP - Unbound Medicine ER -