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1. ポルフィリン症：概要porphyrias an overview [show details]
… uroporphyrinogen III after tissue accumulation of ALA. In HCP and VP, porphyrin accumulation occurs because the enzyme deficiencies lead to accumulation of porphyrinogens,… Patterns of inheritance of the porphyrias are as follows : Autosomal dominant with low penetrance – Porphyrias with autosomal dominant inheritance have low penetrance (ie, other genetic,…
2. 遺伝コプロポルフィリン症hereditary coproporphyria [show details]
… reduced CPOX activity in individuals who are heterozygous for a CPOX mutation leads to accumulation of coproporphyrinogen III,…porphyrins Genetic testing is not required for those with characteristic biochemical findings but is recommended to help confirm the diagnosis. Knowledge of the familial mutation facilitates genetic testing…
3. アミロイドーシスの概要overview of amyloidosis [show details]
…proteins (eg, serum amyloid A) Heritable disorders that affect the level or accumulation of precursor proteins (eg, presenilin mutations in familial Alzheimer disease) Heritable disorders that may result in …
4. 舞踏病の概要overview of chorea [show details]
… overlapping disorders, with subtypes defined by differences at the molecular genetic level. Neuroferritinopathy results in accumulation of iron in basal ganglia due to a mutation in the FTL gene encoding the …
5. 遺伝性皮膚疾患：概要the genodermatoses an overview [show details]
… expression pattern of that keratin. The ichthyoses are a diverse group of hereditary skin disorders characterized by the accumulation of "fish-like" scales resulting from abnormal epidermal cell kinetics or …

Japanese Journal

遺伝子診療を理解するための遺伝医学の基礎多因子疾患 (遺伝子診療学(第2版)--遺伝子診断の進歩とゲノム治療の展望) -- (遺伝子診断)

羽田明
日本臨床 68(-) (984), 21-26, 2010-08
NAID 40017241334

小児片頭痛患児の外来初診時年齢男女別統計および家族集積性についての検討. 第38回日本頭痛学会総会プログラム抄録集

荒木清
日頭痛会誌 37, 234, 2010
NAID 50007649862

日本人の摂食障害姉妹発症例における生涯病型,代償行動,ならびに体重の関連性の有無について

後藤直子,小牧元,安藤哲也 [他],伊澤敏,石川俊男,大隈和喜,岡部憲二郎,黒川順夫,小西貴幸,高宮静男,武井美智子,傳田健三,冨田和巳,長井信篤,長峯清英,西園マーハ文,本間一正,町田英世
心身医学 49(5), 373-381, 2009-05-01
摂食障害患者姉妹例18組36人(平均調査時年齢23.6±7.5歳,平均罹病期間101.0±88.7カ月)の生涯病型における関連性の有無検討を行った.DSM-IVに基づき,生涯病型として神経性食欲不振症(AN),神経性過食症(BN),その両者(AN&BN),ならびに特定不能の摂食障害に分類した.さらに同胞間における生涯病型の関連性を検討するために,生涯病型,正常体重の最低限(BMI17.5kg/m^ …
NAID 110007161265