Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
Publication
, Journal Article
Brivet, M; Slama, A; Millington, DS; Roe, CR; Demaugre, F; Legrand, A; Boutron, A; Poggi, F; Saudubray, JM
Published in: J Inherit Metab Dis
1996
Duke Scholars
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
1996
Volume
19
Issue
2
Start / End Page
181 / 184
Location
United States
Related Subject Headings
- Retrospective Studies
- Mitochondria
- Male
- Lymphocytes
- Intracellular Membranes
- Infant
- Humans
- Genetics & Heredity
- Fibroblasts
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Brivet, M., Slama, A., Millington, D. S., Roe, C. R., Demaugre, F., Legrand, A., … Saudubray, J. M. (1996). Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inherit Metab Dis, 19(2), 181–184. https://doi.org/10.1007/BF01799424
Brivet, M., A. Slama, D. S. Millington, C. R. Roe, F. Demaugre, A. Legrand, A. Boutron, F. Poggi, and J. M. Saudubray. “Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.” J Inherit Metab Dis 19, no. 2 (1996): 181–84. https://doi.org/10.1007/BF01799424.
Brivet M, Slama A, Millington DS, Roe CR, Demaugre F, Legrand A, et al. Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inherit Metab Dis. 1996;19(2):181–4.
Brivet, M., et al. “Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.” J Inherit Metab Dis, vol. 19, no. 2, 1996, pp. 181–84. Pubmed, doi:10.1007/BF01799424.
Brivet M, Slama A, Millington DS, Roe CR, Demaugre F, Legrand A, Boutron A, Poggi F, Saudubray JM. Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inherit Metab Dis. 1996;19(2):181–184.
Published In
J Inherit Metab Dis
DOI
ISSN
0141-8955
Publication Date
1996
Volume
19
Issue
2
Start / End Page
181 / 184
Location
United States
Related Subject Headings
- Retrospective Studies
- Mitochondria
- Male
- Lymphocytes
- Intracellular Membranes
- Infant
- Humans
- Genetics & Heredity
- Fibroblasts
- Female