3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

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3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

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label

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

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prefLabel

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

@en

P1476

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

@en

P2093

Jiangtao Wang

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Songyan Liu

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Xiaosheng Hao

http://www.w3.org/2001/XMLSchema#string

Yan Zhang

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Yinbo Chen

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Yunpeng Hao

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P2860

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria.

Ketone body metabolism and its defects.

Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.

Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.

A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency

Pediatric Inflammatory Diseases. Part IV: Miscellaneous, Reye, PRES, Sarcoidosis.

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

P304

2573-2576

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P31

scholarly article

P356

10.3892/ETM.2016.3243

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2016-04-11T00:00:00Z

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P698

27284350

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P932

4887778

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