WordNet
- an enzyme that catalyzes the conversion of a proenzyme to an active enzyme
- the basic unit of money in Papua New Guinea
PrepTutorEJDIC
- 〈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
UpToDate Contents
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- 1. ホスホリラーゼbキナーゼ欠損症 phosphorylase b kinase deficiency
- 2. 肝ホスホリラーゼ欠損症（糖原病VI型、エール病） liver phosphorylase deficiency glycogen storage disease vi hers disease
- 3. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
- 4. 筋ホスホリラーゼ欠損症（糖原病V型、マッカードル病） muscle phosphorylase deficiency glycogen storage disease v mcardle disease
- 5. 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
English Journal
- Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
- Kim JA1, Kim JH1, Lee BH1, Kim GH2, Shin YS3, Yoo HW1, Kim KM1.
- Pediatric gastroenterology, hepatology & nutrition.Pediatr Gastroenterol Hepatol Nutr.2015 Jun;18(2):138-43. doi: 10.5223/pghn.2015.18.2.138. Epub 2015 Jun 29.
- Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is on
- PMID 26157701
- Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
- Albash B1, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.
- European journal of pediatrics.Eur J Pediatr.2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11.
- Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of c
- PMID 24326380
- Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
- Bali DS1, Goldstein JL2, Fredrickson K3, Rehder C4, Boney A5, Austin S6, Weinstein DA7, Lutz R8, Boneh A9, Kishnani PS10.
- Molecular genetics and metabolism.Mol Genet Metab.2014 Mar;111(3):309-13. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.
- Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. Clinical severity
- PMID 24389071
Japanese Journal
- 臨床研究・症例報告 軽度の肝腫大,肝障害で経過観察されていたX連鎖性肝型ホスホリラーゼbキナーゼ欠損症の双胎児
- 小児科臨床 65(2), 243-247, 2012-02
- NAID 40019146471
- Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency
- Tohoku journal of experimental medicine 200(1), 47-53, 2003-05-01
- NAID 10011990298
- Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency
- The Tohoku Journal of Experimental Medicine 200(1), 47-53, 2003
- NAID 130004459252
Related Links
- 1. Phosphorylase Kinase Deficiency. Goldstein J, Austin S, Kishnani P, Bali D. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors.
- Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen.
Related Pictures
★リンクテーブル★
| リンク元 | 「糖原病VIII型」「ホスホリラーゼキナーゼ欠損症」 |
| 関連記事 | 「deficiency」「kinase」「phosphorylase kinase」 |
「糖原病VIII型」
- 英
- type VIII glycogen storage disease、glycogen storage disease type VIII
- 同
- 8型糖原貯蔵障害、糖原病8型, glycogenosis type VIII、肝ホスホリラーゼキナーゼ欠損症 hepatic phosphorylase kinase deficiency、ホスホリラーゼキナーゼ欠損症 phosphorylase kinase deficiency
「ホスホリラーゼキナーゼ欠損症」
「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
「kinase」
[★] キナーゼ カイネース リン酸化酵素 phosphoenzyme phosphotransferase