methylglutaric aciduria

メチルクロトニルグリシン尿症

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• 1. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
• 2. 有機酸血症 organic acidemias
• 3. 児童虐待：小児における虐待による頭部外傷（AHT）の眼の所見 child abuse eye findings in children with abusive head trauma aht
• 4. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
• 5. 高IgD症候群：臨床症状および診断 hyperimmunoglobulin d syndrome clinical manifestations and diagnosis

English Journal

• Selective screening of glutaric acid acidurias by capillary electrophoresis-mass spectrometry.

• Fernández-Bravo J1, de Andrés F2, Zougagh M3, Ríos Á4.
• Journal of pharmaceutical and biomedical analysis.J Pharm Biomed Anal.2017 Jun 19;145:40-45. doi: 10.1016/j.jpba.2017.06.037. [Epub ahead of print]
• PMID 28648786

• Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

• Roland D1, Jissendi-Tchofo P2, Briand G3, Vamecq J4, Fontaine M5, Ultré V6, Acquaviva-Bourdain C7, Mention K8, Dobbelaere D9.
• Molecular genetics and metabolism.Mol Genet Metab.2017 Jun;121(2):111-118. doi: 10.1016/j.ymgme.2017.03.006. Epub 2017 Mar 30.
• PMID 28396157

• Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release.

• Fernandes CG1, Rodrigues MDN1, Seminotti B1, Colín-González AL2, Santamaria A2, Quincozes-Santos A1, Wajner M3,4.
• Molecular neurobiology.Mol Neurobiol.2016 Aug;53(6):3586-3595. doi: 10.1007/s12035-015-9289-9. Epub 2015 Jun 23.
• PMID 26099308

Japanese Journal

• 3-hydroxy-3-methylglutaric aciduria : response to carnitine therapy and fat and leucine restriction

• J Inherit Metab Dis. 10, 142-146, 1987
• NAID 30012220108

Related Links

• 3-Hydroxy-3-Methylglutaric Aciduria | Baby's First Test ...

Each child with 3-hydroxy-3-methylglutaric aciduria (HMG) has a slightly different experience. Most affected children start to show signs of HMG between 3 months and 2 years of age. In a few cases, babies start to show signs of the ...

• 3-Hydroxy-3-methylglutaric aciduria - Disease InfoSearch

Advocacy and Support Organizations Condition Specific Organizations Following organizations serve the condition "3-Hydroxy-3-methylglutaric aciduria" for support ... CLIMB - Children Living with Inherited Metabolic Diseases Climb ...

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★リンクテーブル★

リンク元	「メチルクロトニルグリシン尿症」
拡張検索	「β-methylglutaric aciduria」

「メチルクロトニルグリシン尿症」

　　[★]

英

methylglutaric aciduria

「β-methylglutaric aciduria」

　　[★] β-メチルクロトニルグリシン尿症