نتایج جستجو برای: leukodystrophy
تعداد نتایج: 2650 فیلتر نتایج به سال:
how to cite this article: nafissi sh. electrophysiologic studies in patients with leukodystrophy. iran j child neurol autumn 2014;8:4 (suppl.1):8. pls see pdf.
OBJECTIVE Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated ba...
Galactosaemia is a group of autosomal recessive metabolic disorders characterised by increased blood levels galactose. It cataracts, organomegaly, sepsis and developmental delay. We are reporting case galactosaemia presenting as neurodegenerative disease with leukodystrophy-like presentation. An 11-month-old boy born to second-degree consanguineously married couple presented delay, vomiting, le...
how to cite this article: zamani gr. metachromatic leukodystrophy: overveiw. iran j child neurol autumn 2014;8:4 (suppl.1):5-6. pls see pdf.
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central nervous system deterioration. We investigated whether allogeneic hematopoietic stem-cell transplantation can provide a source of leukocyte galactocerebrosidase and thereby prevent the decline of central nervous system function in patients with the disease. METHODS Fiv...
Evoked potentials were studied in 22 children with leukodystrophy [10 metachromatic leukodystrophy (MLD), 4 Pelizaeus-Merzbacher (PM), 3 Krabbes, 2 adrenoleukodystrophy (ALD), and one each of Alexander's, Canavan's and multiple sulphatase deficiency (MSD) diseases]. The ABRs were abnormal in all patients (except for the younger ALD), but varied with the type of leukodystrophy. The PM and Krabbe...
A 22 year old male patient with metachromatic leukodystrophy presented in our hospital for multiple teeth extraction under general anaesthesia. Metachromatic is a rare congenital neurodegenerative disorder which predominantly affect the corticospinal tract. In this case report anaesthetic concerns and perioperative management are discussed.
Inherited leukodystrophies are a group of neurological disorders with significant morbidity and mortality. Children and their families can experience lengthy diagnostic odysseys; however, there is no data on the charges related to testing for diagnosis in leukodystrophy patients, compared to approaches using next-generation sequencing (NGS). Our objective was to determine charges related to the...
BACKGROUND This study was conducted to describe the clinical and genetic features of patients with late infantile metachromatic leukodystrophy. METHODS Clinical and genetic manifestations of five Taiwanese patients with late infantile metachromatic leukodystrophy from January 2003 to April 2014 were reviewed. The genetic features of such patients reported in Asian countries during a period of...
Siblings with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency were evaluated with CT and MR. Both imaging studies demonstrated a leukodystrophy with preferential involvement of the deeper arcuate fibers.
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