Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

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

P2860

Q38515148-734572D0-9642-4949-B15F-2C3615231C42

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Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

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2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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P1476

Incidence of 3-hydroxy-3-methy ...... ency in Brazil, South America.

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A Sitta

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C R Vargas

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D Coelho

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G C Ferreira

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G Schmitt

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K M Gibson

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M L Cardoso

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M Wajner

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P2860

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats.

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

Disorders of ketone production and utilization.

Anaplerotic molecules: current and future.

Molecular genetics of HMG-CoA lyase deficiency.

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.

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s10545-007-0756-y

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511-515

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scholarly article

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10.1007/S10545-007-0756-Y

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31 Suppl 3

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2007-12-17T00:00:00Z

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18080783

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Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

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P2860

P2860

Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America.

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