Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
LA Adang, O Sherbini, L Ball, M Bloom… - Molecular genetics and …, 2017 - Elsevier
Leukodystrophies are a broad class of genetic disorders that result in disruption or
destruction of central myelination. Although the mechanisms underlying these disorders are …
destruction of central myelination. Although the mechanisms underlying these disorders are …
Consensus statement on preventive and symptomatic care of leukodystrophy patients
Leukodystrophies are inherited disorders whose primary pathophysiology consists of
abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients …
abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients …
Megalencephalic leukoencephalopathy with subcortical cysts: characterization of disease variants
EMC Hamilton, P Tekturk, F Cialdella… - Neurology, 2018 - AAN Enterprises
Objective To provide an overview of clinical and MRI characteristics of the different variants
of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) …
of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) …
Association of diagnosis of leukodystrophy with race and ethnicity among pediatric and adolescent patients
JL Bonkowsky, J Wilkes, T Bardsley… - JAMA Network …, 2018 - jamanetwork.com
Importance Inherited leukodystrophies are a group of neurological diseases affecting myelin
that cause significant morbidities and death. Timely and correct diagnosis is important for …
that cause significant morbidities and death. Timely and correct diagnosis is important for …
[HTML][HTML] The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary …
T Opladen, E Cortès-Saladelafont… - Molecular Genetics and …, 2016 - Elsevier
Introduction Neurotransmitters are chemical messengers that enable communication
between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis …
between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis …
Leukodystrophies in children: diagnosis, care, and treatment
Leukodystrophies are a group of genetically determined disorders that affect development or
maintenance of central nervous system myelin. Leukodystrophies have an incidence of at …
maintenance of central nervous system myelin. Leukodystrophies have an incidence of at …
The leukodystrophies
HB Gordon, A Letsou, JL Bonkowsky - Seminars in neurology, 2014 - thieme-connect.com
Leukodystrophies are a group of genetically determined disorders that affect development or
maintenance of central nervous system myelin. Leukodystrophies have a reported incidence …
maintenance of central nervous system myelin. Leukodystrophies have a reported incidence …
Reliability of the telemedicine application of the Gross Motor Function Measure-88 in patients with leukodystrophy
Background Leukodystrophies are a rare class of disorders characterized by severe
neuromotor disability. There is a strong need for research regarding the functional status of …
neuromotor disability. There is a strong need for research regarding the functional status of …
Hospitalization burden and incidence of Krabbe disease
Objective: The purpose of our study was to understand the healthcare burden and incidence
of Krabbe disease (Krabbe). Methods: Retrospective analysis of Krabbe patients identified …
of Krabbe disease (Krabbe). Methods: Retrospective analysis of Krabbe patients identified …
Networking across borders for individuals with organic acidurias and urea cycle disorders: the E-IMD consortium
Background: Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at
increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care …
increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care …