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Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

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Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. / Kohlschütter, Alfried; Bley, Annette; Brockmann, Knut; Gärtner, Jutta; Krägeloh-Mann, Ingeborg; Rolfs, Arndt; Schöls, Ludger.

in: BRAIN DEV-JPN, Jahrgang 32, Nr. 2, 02.2010, S. 82-89.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kohlschütter, A, Bley, A, Brockmann, K, Gärtner, J, Krägeloh-Mann, I, Rolfs, A & Schöls, L 2010, 'Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults', BRAIN DEV-JPN, Jg. 32, Nr. 2, S. 82-89. https://doi.org/10.1016/j.braindev.2009.03.014

APA

Kohlschütter, A., Bley, A., Brockmann, K., Gärtner, J., Krägeloh-Mann, I., Rolfs, A., & Schöls, L. (2010). Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. BRAIN DEV-JPN, 32(2), 82-89. https://doi.org/10.1016/j.braindev.2009.03.014

Vancouver

Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A et al. Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. BRAIN DEV-JPN. 2010 Feb;32(2):82-89. https://doi.org/10.1016/j.braindev.2009.03.014

Bibtex

@article{87e67bb902ec421897563aa3a4ce4a2d,
title = "Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults",
abstract = "Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list.",
keywords = "Age of Onset, Brain Diseases, Metabolic/diagnosis, Hereditary Central Nervous System Demyelinating Diseases/diagnosis, Humans, Leukoencephalopathies/diagnosis, Magnetic Resonance Imaging",
author = "Alfried Kohlsch{\"u}tter and Annette Bley and Knut Brockmann and Jutta G{\"a}rtner and Ingeborg Kr{\"a}geloh-Mann and Arndt Rolfs and Ludger Sch{\"o}ls",
note = "2009 Elsevier B.V. All rights reserved.",
year = "2010",
month = feb,
doi = "10.1016/j.braindev.2009.03.014",
language = "English",
volume = "32",
pages = "82--89",
journal = "BRAIN DEV-JPN",
issn = "0387-7604",
publisher = "Elsevier",
number = "2",

}

RIS

TY - JOUR

T1 - Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

AU - Kohlschütter, Alfried

AU - Bley, Annette

AU - Brockmann, Knut

AU - Gärtner, Jutta

AU - Krägeloh-Mann, Ingeborg

AU - Rolfs, Arndt

AU - Schöls, Ludger

N1 - 2009 Elsevier B.V. All rights reserved.

PY - 2010/2

Y1 - 2010/2

N2 - Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list.

AB - Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems. Here we present a compilation of genetic leukoencephalopathies to consider when one is confronted with white matter disease of possibly genetic origin. The table contains essentials such as age at onset of symptoms, clinical and MRI characteristics, basic defect, and useful diagnostic studies. The table serves as a diagnostic check list.

KW - Age of Onset

KW - Brain Diseases, Metabolic/diagnosis

KW - Hereditary Central Nervous System Demyelinating Diseases/diagnosis

KW - Humans

KW - Leukoencephalopathies/diagnosis

KW - Magnetic Resonance Imaging

U2 - 10.1016/j.braindev.2009.03.014

DO - 10.1016/j.braindev.2009.03.014

M3 - SCORING: Journal article

C2 - 19427149

VL - 32

SP - 82

EP - 89

JO - BRAIN DEV-JPN

JF - BRAIN DEV-JPN

SN - 0387-7604

IS - 2

ER -