DOI: 10.1007/bf02185756. Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

10.1007/bf02185756

Crossref journal-article

Springer Science and Business Media LLC

Human Genetics (297)

Bibliography

Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., & Willems, P. J. (1996). Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. Human Genetics, 97(3), 291â293.

Authors 6

Ingrid Handig (first)
Erna Dams (additional)
Franco Taroni (additional)
Sabine Van Laere (additional)
Thierry de Barsy (additional)
Patrick J. Willems (additional)

References 21 Referenced 27

Bieber LL (1988) Carnitine. Annu Rev Biochem 57:261–283 (10.1146/annurev.bi.57.070188.001401) / Annu Rev Biochem by LL Bieber (1988)
Bonnefont J-P, Cepanec C, Munnich A, Saudubray J-M, Demaugre F (1992) Infantile form of CPT II deficiency: identification of a missense mutation in the CPT II gene. Am J Hum Genet 51:A165 / Am J Hum Genet by J-P Bonnefont (1992)
Bougnères PF, Saudubray JM, Marsac C, Bernard O, Odièvre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 98:742–746 (10.1016/S0022-3476(81)80834-7) / J Pediatr by PF Bougnères (1981)
Demaugre F, Bonnefont J-P, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M, DiDonato S, Saudubray J-M (1988) Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: two distinct entities. Pediatr Res 24:308–311 (10.1203/00006450-198809000-00006) / Pediatr Res by F Demaugre (1988)
Demaugre F, Bonnefont J-P, Cepanec C, Scholte J, Saudubray JM, Leroux JP (1990) Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects. Pediatr Res 27:497–500 (10.1203/00006450-199005000-00016) / Pediatr Res by F Demaugre (1990)
Demaugre F, Bonnefont J-P, Colonna M, Cepanec C, Leroux J-P, Saudubray J-M (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87:859–864 (10.1172/JCI115090) / J Clin Invest by F Demaugre (1991)
DiMauro S, Papadimitriou A (1986) Carnitine palmitoyltransferase deficiency. In: Engel AG, Banker BQ (eds) Myology 1st edn. McGraw-Hill, New York, pp 1697–1708 / Myology by S DiMauro (1986)
Falik-Borenstein ZC, Jordan SC, Saudubray J-M, Brivet M, Demaugre F, Edmond J, Cederbaum SD (1992) Brief report: renal tubular acidosis in camitine palmitoyltransferase type 1 deficiency. N Engl J Med 327:24–27 (10.1056/NEJM199207023270105) / N Engl J Med by ZC Falik-Borenstein (1992)
Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S (1991) cDNA cloning, sequence analysis and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 88:661–665 (10.1073/pnas.88.2.661) / Proc Natl Acad Sci USA by G Finocchiaro (1991)
Gellera C, Witt DR, Verderio E, Cavadini P, DiDonato S, Taroni F (1992) Molecular study of lethal neonatal carnitine palmitoyltransferase II (CPT II) deficiency. Am J Hum Genet 51:A168 / Am J Hum Genet by C Gellera (1992)
Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, Zuffardi O, Taroni F (1994) Assignment of the human camitine palmitoyltransferase II gene (CPT I) to chromosome 1p32. Genomics 24: 195–197 (10.1006/geno.1994.1605) / Genomics by C Gellera (1994)
Hug G, Bove KE, Soukup S (1991) Lethal neonatal multiorgan deficiency of camitine palmitoyltransferase II. N Engl J Med 325:1862–1864 (10.1056/NEJM199112263252607) / N Engl J Med by G Hug (1991)
Kelly KJ, Garland JS, Tang TT, Shug AL, Chusid MJ (1989) Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyltransferase deficiency. Pediatrics 84:312–316 (10.1542/peds.84.2.312) / Pediatrics by KJ Kelly (1989)
McGarry JD, Woeltje KF, Kuwajima M, Foster DW (1989) Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase. Diabetes Metab Rev 5:271–284 (10.1002/dmr.5610050305) / Diabetes Metab Rev by JD McGarry (1989)
Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S (1992) Molecular characterization of inherited camitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89:8429–8433 (10.1073/pnas.89.18.8429) / Proc Natl Acad Sci USA by F Taroni (1992)
Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S (1993) Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4:314–320 (10.1038/ng0793-314) / Nat Genet by F Taroni (1993)
Taroni F, Gellera C, Cavadini P, Baratta S, Lamantea E, Dethlefs S, DiDonato S, Reik RA, Benke PJ (1994) Lethal camitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular genetic study. Am J Hum Genet 55:A245 / Am J Hum Genet by F Taroni (1994)
Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F (1995) Camitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4:19–29 (10.1093/hmg/4.1.19) / Hum Mol Genet by E Verderio (1995)
Witt DR, Theobald M, Santa-Maria M, Packman S, Townsend S, Sweetman L, Goodman S, Rhead W, Hoppel C (1991) Carnitine palmitoyltransferase-type 2 deficiency: two new cases and succesful prenatal diagnosis. Am J Hum Genet 49:A109 / Am J Hum Genet by DR Witt (1991)
Woeltje KF, Esser V, Weis BC, Cox WF, Schroeder JG, Liao S-T, Foster DW, McGarry JD (1990) Intertissue and interspecies characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system. J Biol Chem 265:10714–10719 (10.1016/S0021-9258(18)87005-3) / J Biol Chem by KF Woeltje (1990)
Zinn AB, Hoppel CL (1991) An unusual form of carnitine palmitoyltransferase B (CPT-B) deficiency associated with neonatal cardiomyopathy and renal dysorganogenesis. Am J Hum Genet 49:A109 / Am J Hum Genet by AB Zinn (1991)

Dates

Type	When
Created	19 years, 11 months ago (Oct. 5, 2005, 12:23 p.m.)
Deposited	2 years, 4 months ago (May 4, 2023, 7:32 p.m.)
Indexed	1 year, 4 months ago (April 16, 2024, 2:12 p.m.)
Issued	29 years, 6 months ago (March 1, 1996)
Published	29 years, 6 months ago (March 1, 1996)
Published Print	29 years, 6 months ago (March 1, 1996)

Funders 0

None

BibTeX

@article{Handig_1996, title={Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency}, volume={97}, ISSN={1432-1203}, url={http://dx.doi.org/10.1007/bf02185756}, DOI={10.1007/bf02185756}, number={3}, journal={Human Genetics}, publisher={Springer Science and Business Media LLC}, author={Handig, Ingrid and Dams, Erna and Taroni, Franco and Van Laere, Sabine and de Barsy, Thierry and Willems, Patrick J.}, year={1996}, month=mar, pages={291–293} }

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