نتایج جستجو برای: van laere syndrome
تعداد نتایج: 686720 فیلتر نتایج به سال:
Abstract Background/Aims Myopathies due to inborn errors of metabolism can be difficult differentiate from inflammatory myopathies. Careful history, examination and laboratory tests are required establish the diagnosis. We present a case Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) masquerading as an myopathy. Methods A 37-year-old lady presented with severe proximal musc...
UNLABELLED Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE To test if genetic variants in UBQLN1 are involved in ALS. METHODS 102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleot...
Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a possible autoimmune condition, analysis of the child's exome resulted in a diagnosis of Brown-Vialetto-Van Laere syndrome 2 (BVVLS2). This new diagnosis led to ...
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