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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Yahia+A%22">Yahia A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Elsayed+L%22">Elsayed L</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. doctorlbo@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Babai+A%22">Babai A</searchLink>; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Salih+MA%22">Salih MA</searchLink>; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22El-Sadig+SM%22">El-Sadig SM</searchLink>; Department of Medicine, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Neurology, Soba University Hospital, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Amin+M%22">Amin M</searchLink>; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Koko+M%22">Koko M</searchLink>; Department of Neurology & Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Abubakr+R%22">Abubakr R</searchLink>; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Idris+R%22">Idris R</searchLink>; Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Taha+SOMA%22">Taha SOMA</searchLink>; Department of Radiology, Dar Al Elaj specialized hospital, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Elmalik+SA%22">Elmalik SA</searchLink>; Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Brice+A%22">Brice A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ahmed+AE%22">Ahmed AE</searchLink>; Department of Physiology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Neurology, Soba University Hospital, Khartoum, Sudan.<br /><searchLink fieldCode="AU" term="%22Stevanin+G%22">Stevanin G</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22100968555%22">BMC neurology</searchLink> [BMC Neurol] 2018 Oct 23; Vol. 18 (1), pp. 175. <i>Date of Electronic Publication: </i>2018 Oct 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2377 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712377%22">14712377 </searchLink><i>NLM ISO Abbreviation: </i>BMC Neurol <i>Subsets: </i>MEDLINE
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