-
1دورية أكاديمية
المؤلفون: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency, MADD, Glutaric aciduria type II, ETFDH, Riboflavin, South Africa, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
2
المؤلفون: Kireshnee Naidu, Louis Vlok, Jeannine M. Heckmann, Helen M Cross, Benoît Marin, Franclo Henning
المصدر: European Journal of Neurology. 28:81-89
مصطلحات موضوعية: Male, medicine.medical_specialty, Population, Disease, South Africa, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Motor Neuron Disease, Amyotrophic lateral sclerosis, Prospective cohort study, education, Incidence study, education.field_of_study, business.industry, Incidence, Incidence (epidemiology), Amyotrophic Lateral Sclerosis, medicine.disease, Confidence interval, Neurology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Demography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::974639152c42c8b699f9116121993d71Test
https://doi.org/10.1111/ene.14499Test -
3
المؤلفون: Jeannine M. Heckmann, Melissa Nel, Gloudi Agenbag, Franclo Henning, Helen M Cross, Alina I. Esterhuizen
المصدر: J Neurol Sci
مصطلحات موضوعية: Male, Genetic genealogy, Black People, Biology, Article, White People, Cohort Studies, South Africa, 03 medical and health sciences, 0302 clinical medicine, Asian People, C9orf72, medicine, Humans, 030212 general & internal medicine, Allele, Amyotrophic lateral sclerosis, Family history, Aged, Genetics, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, White (mutation), Neurology, Cohort, Female, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7b75c8171e54f1595fb18e835551efTest
https://doi.org/10.1016/j.jns.2019.04.026Test