alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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• 1. 小児における痙攣およびてんかん：初期治療およびモニタリング seizures and epilepsy in children initial treatment and monitoring
• 2. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation
• 3. バルプロ酸中毒 valproic acid poisoning
• 4. 幼児および小児における痙攣発作の臨床検査診断 clinical and laboratory diagnosis of seizures in infants and children
• 5. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis

English Journal

• A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

• Rajakulendran S1, Pitceathly RD2, Taanman JW3, Costello H4, Sweeney MG5, Woodward CE5, Jaunmuktane Z6, Holton JL6, Jacques TS7, Harding BN8, Fratter C9, Hanna MG1, Rahman S4,10.
• PloS one.PLoS One.2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.
• Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in su
• PMID 26735972

• [Baló's disease (concentric sclerosis)].

• Masaki K, Kira J.
• Nihon rinsho. Japanese journal of clinical medicine.Nihon Rinsho.2015 Sep;73 Suppl 7:320-6.
• PMID 26480720

• Eccentric development of Balo's concentric sclerosis: detected by magnetic resonance diffusion-weighted imaging and magnetic resonance spectroscopy.

• Chen F1, Liu T, Li J, Xing Z, Huang S, Wen G, Lu G.
• The International journal of neuroscience.Int J Neurosci.2015 Jun;125(6):433-40. doi: 10.3109/00207454.2014.946563. Epub 2014 Sep 3.
• BACKGROUND: The concentricity of BCS has captured wide attention; the findings of the current study may provide useful information on the centrifugal pathogenesis of BCS.OBJECTIVE: This study aims to evaluate the performance of MRI, DWI and MRS in elucidating the pathogenesis of Balo's lesions expan
• PMID 25051427

Japanese Journal

• Valproate hepatotoxicity in a 5-year-old boy with cerebral palsy due to neonatal asphyxia

• Pediatrics international : official journal of the Japan Pediatric Society 48(6), 631-633, 2006-12-01
• NAID 10019261220

• Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease

• J. Child Neurol. 15, 473-477, 2000
• NAID 30036046901

• Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

• J Child Neurol 5, 273-287, 1990
• NAID 10005960477

Related Links

• Alpers-Huttenlocher syndrome - Genetics Home Reference

Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve ...

• Alpers-Huttenlocher syndrome | definition of Alpers ...

Alpers syndrome A rare (1:105) autosomal recessive condition (OMIM:203700) clinically characterised by premature closure of cranial sutures resulting in a peaked skull and abnormal facies, and by intractable epilepsy, loss of mental ...

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