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Stimmler syndrome : ウィキペディア英語版 | Stimmler syndrome
Stimmler syndrome is a rare autosomal recessive〔(【引用サイトリンク】 publisher=Orphanet )〕 congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine.〔(【引用サイトリンク】 publisher=Right Diagnosis )〕 ==Symptoms== Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes. The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 as well as Leigh subacute necrotizing encephalopathy with lactic acidosis
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Stimmler syndrome」の詳細全文を読む
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