atypical nonketotic hyperglycinemia

非典型非ケトーシス型高グリシン血症

WordNet

1. not representative of a group, class, or type; "a group that is atypical of the target audience"; "a class of atypical mosses"; "atypical behavior is not the accepted type of response that we expect from children" (同)untypical
2. deviating from normal expectations; somewhat odd, strange, or abnormal; "these days large families are atypical"; "atypical clinical findings"; "atypical pneumonia"; "highly irregular behavior" (同)irregular

PrepTutorEJDIC

1. 型にはまらない,異常な

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English Journal

• Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene.

• Brenton JN1, Rust RS2.
• Pediatric neurology.Pediatr Neurol.2014 May;50(5):536-8. doi: 10.1016/j.pediatrneurol.2014.01.018. Epub 2014 Jan 11.
• BACKGROUND: Atypical nonketotic hyperglycinemia is characterized by heterogeneous phenotypes that often include nonspecific behavioral problems, cognitive deficits, and developmental delays.PATIENT: We describe a girl with late-onset nonketotic hyperglycinemia presenting at 5 years of age with hypot
• PMID 24731848

• A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

• Love JM1, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S.
• Journal of child neurology.J Child Neurol.2014 Jan;29(1):122-7. doi: 10.1177/0883073812471432. Epub 2013 Jan 24.
• Nonketotic hyperglycinemia is an inborn error of glycine metabolism. It manifests mostly as an acute encephalopathy in the neonatal period, although later, atypical presentations have also been reported. Mutations in 3 different genes have been implicated in nonketotic hyperglycinemia. Here we repor
• PMID 23349517

• Nonketotic hyperglycinemia: a cause of encephalopathy in children.

• Veríssimo C1, Garcia P, Simões M, Robalo C, Henriques R, Diogo L, Grazina M.
• Journal of child neurology.J Child Neurol.2013 Feb;28(2):251-4. doi: 10.1177/0883073812441063. Epub 2012 Apr 24.
• Nonketotic hyperglycinemia is a rare metabolic disorder with severe, frequently fatal, neurologic manifestations. Reliable and accurate diagnosis depends on careful interpretation of laboratory findings. The clinical suspicion should lead to determination of glycine in plasma and cerebrospinal fluid
• PMID 22532538

Related Links

• Atypical variants of nonketotic hyperglycinemia

Clinical symptoms in atypical nonketotic hyperglycinemia (NKH) are heterogeneous, in sharp contrast to uniform severe neurological symptoms in the classical NKH ... Clinical characteristics In the neonatal form of atypical NKH the ...

• Atypical variants of nonketotic hyperglycinemia. - ResearchGate

ABSTRACT Clinical symptoms in atypical nonketotic hyperglycinemia (NKH) are heterogeneous, in sharp contrast to uniform severe neurological symptoms in the classical NKH. A review of the literature of atypical NKH cases reveals ...

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リンク元	「非典型非ケトーシス型高グリシン血症」
関連記事	「atypical」「hyperglycinemia」

「非典型非ケトーシス型高グリシン血症」

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英

atypical nonketotic hyperglycinemia

「atypical」

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• adj.

• 非定型の, 非定型的な, 非定型性の, 異型の

関

atypia、atypically、atypism、meta、nonclassic、off-type、variant

　 　 　

「hyperglycinemia」

　　[★]

高グリシン血症、グリシン血症

関

glycinemia