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- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
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- 1. グリコーゲン脱分枝酵素欠損症（糖原病III型） glycogen debrancher deficiency glycogen storage disease iii
- 2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
- 3. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
- 4. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
- 5. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
English Journal
- Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.
- Hogrel JY1, van den Bogaart F, Ledoux I, Ollivier G, Petit F, Koujah N, Béhin A, Stojkovic T, Eymard B, Voermans N, Laforêt P.
- European journal of neurology : the official journal of the European Federation of Neurological Societies.Eur J Neurol.2015 Jun;22(6):933-40. doi: 10.1111/ene.12685. Epub 2015 Mar 5.
- BACKGROUND AND PURPOSE: This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease.METHODS: The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise i
- PMID 25740218
- Lessons from two cases: is Fabry disease the correct diagnosis?
- Kiykim E1, Aktuglu Zeybek CA1, Zubarioglu T1, Aydin A1.
- BMJ case reports.BMJ Case Rep.2015 May 12;2015. pii: bcr2014208150. doi: 10.1136/bcr-2014-208150.
- Fabry disease (FD) is an X linked inherited lysosomal storage disorder with complex multisystem involvement; it is caused by deficiency of the lysosomal enzyme α-galactosidase. Deficient enzyme activity leads to a wide spectrum of clinical manifestations consisting of dermatological, ophthalmologic
- PMID 25969484
Japanese Journal
- 筋力低下を呈するdebrancher deficiency(糖原病III型)の9例 : 臨床症状と酵素活性に関する検討
- 臨床神経学 36(4), 540-543, 1996-04-01
- NAID 10008316433
- 糖原解鎖酵素欠損症患者の線維芽細胞の特性
- 産業医科大学雑誌 12(4), 411-418, 1990-12-01
- NAID 110001260405
- Debrancher deficiency myopathyとrimmed vacuole
- 神経内科 20, 637-644, 1984
- NAID 10008312625
Related Links
- Introduction: Debrancher enzyme deficiency Description of Debrancher enzyme deficiency Debrancher enzyme deficiency: An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase ...
- 1. Ann Neurol. 1979 May;5(5):422-36. Debrancher deficiency: neuromuscular disorder in 5 adults. DiMauro S, Hartwig GB, Hays A, Eastwood AB, Franco R, Olarte M, Chang M, Roses AD, Fetell M, Schoenfeldt RS ...
Related Pictures
★リンクテーブル★
| リンク元 | 「コリ病」「脱分枝酵素欠損症」「glycogen storage disease type III」 |
| 関連記事 | 「deficiency」 |
「コリ病」
- 英
- Cori disease Cori's disease
- 同
- III型糖原病 type III glycogen storage disease、glycogen storage disease type III 糖原病III型
- フォーブス病 Forbes disease、限界デキストリン症 limit dextrinosis、アミロ-1,6-グルコシダーゼ欠損症 amylo-1,6-glucosidase deficiency、グリコーゲン脱分枝酵素欠損症 glycogen debrancher deficiency、デブランチャー欠損症 debrancher deficiency
- 関
- 糖原病、Coris disease
- debrancher enzyme deficiency
- hypoglycemia, hepatomegaly, short-stature, and myopathty
検査
- normal: lactate, uric acid and increased cholesterol and triglyceride levels.
「脱分枝酵素欠損症」
「glycogen storage disease type III」
(amylo-1、3型糖原貯蔵障害
「deficiency」
- n.
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve