関: Hers disease、Hers' disease、type VI glycogen storage disease

WordNet

write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
an impairment of health or a condition of abnormal functioning
(computer science) the process of storing information in a computer memory or on a magnetic tape or disk
the act of storing something
the commercial enterprise of storing goods and materials
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/06/04 08:38:59」(JST)

wiki en

Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.^[1] It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959.^[2] The scope of GSD VI now also includes glycogen storage disease type VIII,^[1] IX^[1] (caused by phosphorylase b kinase deficiency) and X^[1] (deficiency protein kinase A).

The incidence of GSD VI is approximately 1 case per 65,000–85,000 births,^[1] representing approximately 30% all cases of glycogen storage disease.^[1] Approximately 75% of these GSD VI cases result from the X-linked recessive forms of phosphorylase kinase deficiency, all other forms are autosomal recessive.^[1]

Signs/symptoms

Patients generally have a benign course, and typically present with hepatomegaly and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels may be normal. However, lactic acidosis may occur during fasting.^[3]

Genetics

GlycogenPhosphorylase

Diagnosis

Treatment

References

^ ^a ^b ^c ^d ^e ^f ^g Glycogen-Storage Disease Type VI at eMedicine
^ Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French). 9 (1): 35–55. PMID 13646331.
^ http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

UpToDate Contents

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1. 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
2. 閉経期のホルモン療法：利益とリスク menopausal hormone therapy benefits and risks
3. 乳児および小児における低血糖症の原因 causes of hypoglycemia in infants and children
4. 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
5. 閉経期のホルモン療法と心血管リスク menopausal hormone therapy and cardiovascular risk

English Journal

Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

Hoogeveen IJ1, van der Ende RM1, van Spronsen FJ1, de Boer F1, Heiner-Fokkema MR1,2, Derks TG3.
JIMD reports.JIMD Rep.2015 Nov 3. [Epub ahead of print]
BACKGROUND: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact.METHODS: A retrospective cohort study of biochemical profiles from supervised clinical f
PMID 26526422

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Roscher A1, Patel J2, Hewson S2, Nagy L2, Feigenbaum A3, Kronick J2, Raiman J2, Schulze A4, Siriwardena K2, Mercimek-Mahmutoglu S5.
Molecular genetics and metabolism.Mol Genet Metab.2014 Nov;113(3):171-6. doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21.
OBJECTIVES: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagno
PMID 25266922

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.
The British journal of radiology.Br J Radiol.2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14.
Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially deva
PMID 24234586

Japanese Journal

Effect of clonidine on the height of a child with glycogen storage disease type VI : A 13 year follow-up study

Asami Tadashi [他],KIKUCHI TOURU,ASAMI KEIKO,UCHIYAMA MAKOTO
Acta paediatrica Japonica 38(5), 524-528, 1996-10-01
NAID 10010500145

「糖原病VI型」

Glycogen storage disease type VI
	Glycogen
Classification and external resources
Specialty	endocrinology
ICD-10	E74.0
ICD-9-CM	271.0
OMIM	232700
DiseasesDB	5311
eMedicine	med/912 ped/2564
MeSH	D006013
GeneReviews	Glycogen Storage Disease Type VI;
	[edit on Wikidata]

　　[★]

英: type VI glycogen storage disease、glycogen storage disease type VI, glycogenosis type VI
同: 肝ホスホリラーゼ欠損性糖原病 hepatophosphorylase deficiency glycogenosis、エール病 Hers disease、肝型グリコーゲンホスホリラーゼ欠損症 liver glycogen phosphorylase deficiency; 6型糖原貯蔵障害、糖原病6型
関: 糖原病

「Hers' disease」

　　[★]

ハース病、ハーズ病、エルス病、ヘルス病、Hers病

関: glycogen storage disease type VI、Hers disease

「type VI glycogen storage disease」

　　[★]

糖原病VI型、糖原病6型

関: glycogen storage disease type VI

「6型糖原貯蔵障害」

　　[★]

英: glycogen storage disease type VI
関: 糖原病VI型

「glycogen storage disease type VII」

　　[★]

糖原病VII型、7型糖原貯蔵障害

関: muscle phosphofructokinase deficiency、Tarui disease、type VII glycogen storage disease

「glycogen storage disease type VIII」

　　[★]

糖原病VIII型、8型糖原貯蔵障害

関: type VIII glycogen storage disease

「disease」

　　[★]

n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

something that is very wrong with people's attitudes, way of life or with society.

関: ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

注意

disease ≠ illness ≠ disorder

「vi」

　　[★]

初速度 initial velocity

linux

検索

:/<文字列>　：　文字列 を検索する（順方向） 
:?<文字列>　：　文字列を検索する（逆方向） 
:n　　　　　：　順方向へ検索する  
:N　　　　　：　逆方向へ検索する

終了

:q　　　　　：　(何も変更していない場合)保存せずに終了
:q!　　　　　：　(何か変更した場合)保存せずに終了

「type」

　　[★]

n.

型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関: form、mode、pattern、type specimen、typed

「storage」

　　[★]

n.

貯蔵

関: pool、pooling、preservation、preserve、reserve、store

「V」

　　[★]

[Ierardi-Curto-1] ^ ^a ^b ^c ^d ^e ^f ^g Glycogen-Storage Disease Type VI at eMedicine

[pmid13646331-2] Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French). 9 (1): 35–55. PMID 13646331.

[3] ttp://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

リンク元	「糖原病VI型」「Hers' disease」「type VI glycogen storage disease」「6型糖原貯蔵障害」
拡張検索	「glycogen storage disease type VII」「glycogen storage disease type VIII」
関連記事	「disease」「vi」「type」「storage」「V」

匿名

検索

案内

案内

glycogen storage disease type VI