Ataxia-telangiectasia (Louis Bar syndrome): with special reference to findings in the peripheral nervous system.
D000135:Acid Phosphatase / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001706:Biopsy; D002648:Child; D004576:Electromyography; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D006801:Humans; D006884:Hydroxybutyrate Dehydrogenase / Q000378:metabolism; D007770:L-Lactate Dehydrogenase / Q000378:metabolism; D008291:Malate Dehydrogenase / Q000378:metabolism; D008297:Male; D008854:Microscopy, Electron; D009186:Myelin Sheath; D009247:NADH, NADPH Oxidoreductases / Q000378:metabolism; D009410:Nerve Degeneration; D009431:Neural Conduction; D010525:Peripheral Nerves / Q000473:pathology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D010543:Peroneal Nerve / Q000503:physiopathology; D011755:Pyrophosphatases / Q000378:metabolism; D011859:Radiography; D012023:Reflex, Monosynaptic; D013385:Succinate Dehydrogenase / Q000378:metabolism; D013497:Sural Nerve / Q000201:enzymology; D013835:Thiamine Pyrophosphate; D013979:Tibial Nerve / Q000503:physiopathology
D007770:L-Lactate Dehydrogenase; D006884:Hydroxybutyrate Dehydrogenase; D008291:Malate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D013385:Succinate Dehydrogenase; D009247:NADH, NADPH Oxidoreductases; D000135:Acid Phosphatase; D000251:Adenosine Triphosphatases; D011755:Pyrophosphatases; D013835:Thiamine Pyrophosphate