Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report.
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| Title: | Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report. |
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| Authors: | Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France., Elsayed L; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. doctorlbo@hotmail.com., Babai A; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia., El-Sadig SM; Department of Medicine, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Neurology, Soba University Hospital, Khartoum, Sudan., Amin M; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Koko M; Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Abubakr R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Idris R; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Taha SOMA; Department of Radiology, Dar Al Elaj specialized hospital, Khartoum, Sudan., Elmalik SA; Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Brice A; Department of Genetics, APHP, Pitié-Salpêtrière Hospital, Paris, France.; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France., Ahmed AE; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Neurology, Soba University Hospital, Khartoum, Sudan., Stevanin G; Ecole Pratique des Hautes Etudes, EPHE, PSL Research University, Paris, France.; Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités UMR_S1127, 75013, Paris, France. |
| Source: | BMC neurology [BMC Neurol] 2018 Oct 23; Vol. 18 (1), pp. 175. Date of Electronic Publication: 2018 Oct 23. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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