Titlebook: Neuroacanthocytosis Syndromes; Adrian Danek Book 2005 Springer Science+Business Media B.V. 2005 attention.gene therapy.genes.genetics.koff

AMASS

書目名稱Neuroacanthocytosis Syndromes影響因子(影響力)




書目名稱Neuroacanthocytosis Syndromes影響因子(影響力)學(xué)科排名




書目名稱Neuroacanthocytosis Syndromes網(wǎng)絡(luò)公開度




書目名稱Neuroacanthocytosis Syndromes網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱Neuroacanthocytosis Syndromes被引頻次




書目名稱Neuroacanthocytosis Syndromes被引頻次學(xué)科排名




書目名稱Neuroacanthocytosis Syndromes年度引用




書目名稱Neuroacanthocytosis Syndromes年度引用學(xué)科排名




書目名稱Neuroacanthocytosis Syndromes讀者反饋




書目名稱Neuroacanthocytosis Syndromes讀者反饋學(xué)科排名

ARBOR

防銹

Acanthocytes and Disorders of Lipoprotein Metabolismntury ago to describe the dysmorphic erythrocytes seen in abetalipoproteinemia (ABL), a complex metabolic disorder that is characterised by fat malabsorption, atypical retinitis pigmentosa and spinocerebellar ataxia. ABL results from mutation in the gene encoding microsomal triglyceride transfer pro

eardrum

慎重

CON

McLeod Syndrome: A Clinical Reviewe encoding the XK protein, a membrane transport protein of yet unknown function. Hematologically, McLeod syndrome is characterized by an absent Kx erythrocyte antigen, weak expression of Kell antigens, acanthocytosis, and compensated hemolysis. Asymptomatic male McLeod carriers have elevated serum c

課程

萬花筒

Acanthocytes in Pantothenate Kinase Associated Neurodegeneration shown to be due to mutations in the gene for pantothenate kinase 2 (.). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). . is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in pho

祖先

Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphologyn and distribution. These morphological changes occur normally because of ultrastructural abnormalities of the erythrocyte membrane due to lipid or membrane skeleton alterations. Since genetic analyses and/or specific laboratory tests are available only for a minority of disorders associated with ac

CANON

Differential Diagnosis of Serum Creatine Kinase Elevationated creatine kinase levels are identified. General practitioners, anesthesiologists, surgeons and neurologists might be confronted with such an unexplained non-cardiac hyperCKemia. Although this problem is not uncommon, it has been the subject of only a few studies. We provide a clinical review of