Abstract |
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Authors | Y Suzuki, L L Jiang, M Souri, S Miyazawa, S Fukuda, Z Zhang, M Une, N Shimozawa, N Kondo, T Orii, T Hashimoto |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 61
Issue 5
Pg. 1153-62
(Nov 1997)
ISSN: 0002-9297 [Print] United States |
PMID | 9345094
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Fatty Acids
- Multienzyme Complexes
- Palmitates
- RNA, Messenger
- 17-Hydroxysteroid Dehydrogenases
- 3-Hydroxyacyl CoA Dehydrogenases
- Hydro-Lyases
- Peroxisomal Multifunctional Protein-2
- HSD17B4 protein, human
- Enoyl-CoA Hydratase
- lignoceric acid
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Topics |
- 17-Hydroxysteroid Dehydrogenases
- 3-Hydroxyacyl CoA Dehydrogenases
(genetics, metabolism)
- Consanguinity
- Enoyl-CoA Hydratase
(metabolism)
- Fatty Acids
(metabolism)
- Female
- Fibroblasts
- Fluorescent Antibody Technique
- Humans
- Hydro-Lyases
(deficiency, genetics, metabolism)
- Infant
- Japan
- Liver
(enzymology)
- Microbodies
(enzymology)
- Multienzyme Complexes
(deficiency, genetics)
- Oxidation-Reduction
- Palmitates
(metabolism)
- Peroxisomal Disorders
(enzymology, genetics)
- Peroxisomal Multifunctional Protein-2
- Polymerase Chain Reaction
- RNA, Messenger
(genetics, metabolism)
- Sequence Deletion
(genetics)
- Stereoisomerism
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