Ryoikibetsu shokogun shirizu最新文献

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[Blue diaper syndrome]. [蓝尿布综合症]。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/o6a9qp
H. Takita
{"title":"[Blue diaper syndrome].","authors":"H. Takita","doi":"10.32388/o6a9qp","DOIUrl":"https://doi.org/10.32388/o6a9qp","url":null,"abstract":"","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"30 1","pages":"574-5"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85482868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Romano-Ward syndrome]. (Romano-Ward综合症)。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/pz17vm
Y. Tomita, M. Iijima
{"title":"[Romano-Ward syndrome].","authors":"Y. Tomita, M. Iijima","doi":"10.32388/pz17vm","DOIUrl":"https://doi.org/10.32388/pz17vm","url":null,"abstract":"Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term \"long QT\" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"126 1","pages":"211-4"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87689838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
[Opsismodysplasia].
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/kim3bk
H. Numabe
{"title":"[Opsismodysplasia].","authors":"H. Numabe","doi":"10.32388/kim3bk","DOIUrl":"https://doi.org/10.32388/kim3bk","url":null,"abstract":"","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"85 1","pages":"380-1"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79370717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
[Gerstmann-Sträussler-Scheinker syndrome].
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/bmt311
Y. Kuroda
{"title":"[Gerstmann-Sträussler-Scheinker syndrome].","authors":"Y. Kuroda","doi":"10.32388/bmt311","DOIUrl":"https://doi.org/10.32388/bmt311","url":null,"abstract":"","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90775716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Zebra body myopathy]. [斑马肌病]。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/cxv3vy
Y. Wakayama
{"title":"[Zebra body myopathy].","authors":"Y. Wakayama","doi":"10.32388/cxv3vy","DOIUrl":"https://doi.org/10.32388/cxv3vy","url":null,"abstract":"Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"202 1","pages":"435-8"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86835392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
[Ornithine transcarbamylase deficiency]. 鸟氨酸转氨基甲酰基酶缺乏症。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/qlmwqs
Megan McCrillis, John D. Thompson
{"title":"[Ornithine transcarbamylase deficiency].","authors":"Megan McCrillis, John D. Thompson","doi":"10.32388/qlmwqs","DOIUrl":"https://doi.org/10.32388/qlmwqs","url":null,"abstract":"Ornithine transcarbamylase deficiency can become evident at any age. The most severe form occurs in the first few days of life. This neonatal-onset form of the disorder usually affects males; it is very rare in females. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Infants with this disorder may be described as \"floppy\" and can experience seizures or coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage may also occur.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"86 1","pages":"395-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76506792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Usher syndrome]. (亚瑟综合征)。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/61ib2m
M. Masuno
{"title":"[Usher syndrome].","authors":"M. Masuno","doi":"10.32388/61ib2m","DOIUrl":"https://doi.org/10.32388/61ib2m","url":null,"abstract":"Usher syndrome is a condition characterized by partial or total hearing loss and vision loss that worsens over time. The hearing loss is classified as sensorineural, which means that it is caused by abnormalities of the inner ear. The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of lightsensitive tissue at the back of the eye (the retina). Vision loss occurs as the lightsensing cells of the retina gradually deteriorate. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the lens of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"24 1","pages":"784-5"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89608285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 30
[gamma-Glutamyl transpeptidase deficiency]. [γ -谷氨酰转肽酶缺乏]。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/spd0iu
H. Kanno
{"title":"[gamma-Glutamyl transpeptidase deficiency].","authors":"H. Kanno","doi":"10.32388/spd0iu","DOIUrl":"https://doi.org/10.32388/spd0iu","url":null,"abstract":"","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"45 1","pages":"373-5"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90822664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
[Pyruvate dehydrogenase phosphatase deficiency]. [丙酮酸脱氢酶磷酸酶缺乏]。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/lyr9ld
M. Ito, J. Matsuda
{"title":"[Pyruvate dehydrogenase phosphatase deficiency].","authors":"M. Ito, J. Matsuda","doi":"10.32388/lyr9ld","DOIUrl":"https://doi.org/10.32388/lyr9ld","url":null,"abstract":"Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"20 1","pages":"343-4"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84910140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
[Pelizaeus-Merzbacher disease]. (Pelizaeus-Merzbacher疾病)。
Ryoikibetsu shokogun shirizu Pub Date : 2020-02-10 DOI: 10.32388/v7spqa
T. Fukuda, H. Sugie
{"title":"[Pelizaeus-Merzbacher disease].","authors":"T. Fukuda, H. Sugie","doi":"10.32388/v7spqa","DOIUrl":"https://doi.org/10.32388/v7spqa","url":null,"abstract":"Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system) that primarily affects males. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, Pelizaeus-Merzbacher disease involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. As a result, overall neurological function is reduced.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"5 1","pages":"487-8"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82056771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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