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المؤلفون: Sachiko Miyamoto, Shigeo Takashima, Shinobu Fukumura, Nobuyuki Shimozawa, Yukihiko Kawasaki, Akiyo Yamamoto, Yumi Habata, Mitsuko Nakashima, Hirotomo Saitsu
المصدر: Child Neurology Open
مصطلحات موضوعية: medicine.medical_specialty, D-bifunctional protein deficiency, leukodystrophy, HSD17B4, business.industry, Genetic heterogeneity, peroxisomal disease, Leukodystrophy, DBP DEFICIENCY, Case Report, General Medicine, medicine.disease, very long chain fatty acids, sensorineural hearing loss, Endocrinology, Internal medicine, Peroxisomal disorder, medicine, Sensorineural hearing loss, business, Progressive leukodystrophy
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المؤلفون: Erin Wadman, Julie Kaplan
المصدر: Molecular Genetics and Metabolism. 132:S28
مصطلحات موضوعية: Genetics, Endocrinology, Diabetes and Metabolism, DBP DEFICIENCY, Puerto rican, Biology, Biochemistry, Phenotype, chemistry.chemical_compound, Endocrinology, chemistry, Allele, Bifunctional, Molecular Biology
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المؤلفون: Ylianttila, M. (Mari)
مصطلحات موضوعية: 3-hydroxyacyl-CoA dehydrogenase, β-oxidation, DBP deficiency, SDR
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2423::1f0f8d5aabfa3b950a6e0a6d70770d94
http://urn.fi/urn:isbn:9514278968